Documents by Rich Van Konynenburg: Parts 1-7

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Documents written by Rich Van Konynenburg


This Wiki page contains a collection of documents written by Rich Van Konynenburg, Ph.D., an independent researcher who has studied ME/CFS since 1996.

Rich has proposed the Glutathione DepletionMethylation Cycle Block hypothesis for the pathogenesis and pathophysiology of ME/CFS and has suggested treatment based on it.

This treatment was tested in a clinical study conducted by Neil Nathan, M.D., and Rich, and was found to produce significant benefit for more than two-thirds of the patients in the study.

The documents on this Wiki page are in the approximate chronological order in which they were written. Since Richs thinking has been modified over time as more has been learned, where there are conflicts the more recent document should be given precedence.

The documents on this page are as follows:

1. Is Glutathione Depletion an Important Part of the Pathogenesis of Chronic Fatigue Syndrome?
This poster paper was presented at the 2004 AACFS conference.
It presents the case for the importance of glutathione depletion in ME/CFS.

2. Chronic Fatigue Syndrome and Autism
This article appeared in the October 2006 issue of the Townsend Letter. It discusses the commonality between autism and ME/CFS with regard to genetics and biochemistry.

3. Glutathione DepletionMethylation Cycle Block: A Hypothesis for the Pathogenesis of Chronic Fatigue Syndrome
This poster paper was presented at the 2007 IACFS conference. It is a detailed biochemical presentation of the GD-MCB hypothesis.

4. Why is the Prevalence of Chronic Fatigue Syndrome Higher in Women than in Men?
This poster paper was also presented at the 2007 IACFS conference. It suggests that the higher prevalence in women is due to the presence of polymorphisms in detox enzymes that metabolize the estrogens, resulting in additional oxidative stress.

5. Suggestions for Treatment of Chronic Fatigue Syndrome (CFS) based on the Glutathione DepletionMethylation Cycle Block Hypothesis for the Pathogenesis of CFS
This article was written on January 25, 2007, in response to a request from Dr. David Bell for a treatment based on the GD-MCB hypothesis. It applies the approach of Amy Yasko, Ph.D., N.D., used primarily in autism, to the treatment of ME/CFS, and includes a simplified approach, extracted from her full treatment protocol.

6. Simplified Treatment Approach Based on the Glutathione DepletionMethylation Cycle Block Pathogenesis Hypothesis for Chronic Fatigue Syndrome (CFS)
This article was written on July 18, 2007. It reviews the history of the simplified treatment and the first six months of experience with it, including adverse effects that were reported.

7. Simpler Explanation of GD-MCB Hypothesis for CFS
This article was written on December 13, 2008, in response to a request for an easier to understand explanation of the hypothesis.
It is written for a general audience and does not require familiarity with the intricacies of biochemistry.

8. Treatment Study of Methylation Cycle Support in Patients with Chronic Fatigue Syndrome and Fibromyalgia
This poster paper was presented at the 2009 IACFS/ME conference. It was authored by Neil Nathan, M.D. and Rich, and discusses a clinical study of the simplified treatment approach involving 30 women in Dr. Nathans practice.

9. Is There a Link between Lyme Disease and Chronic Fatigue Syndrome?
This poster paper was also presented at the 2009 IACFS/ME conference. It suggests that Lyme disease can lead to onset of ME/CFS in those who are genomically predisposed, as a result of glutathione depletion by Borrelia burgdorferi bacteria.

10. Contact Information for Ordering the Methylation Pathways Panel

This panel will determine whether the methylation cycle is partially blocked, whether glutathione is depleted, and whether folates have drained from the cells. It thus indicates whether the GD-MCB hypothesis is likely to apply to a given case, and whether methylation cycle treatment is likely to be helpful.

11. Interpretation of the Methylation Pathways Panel
This article was written on May 19, 2011, in response to a request from Tapan Audhya, Ph.D. It is intended primarily for physicians, to assist them in interpreting this panel.

12. Simplified Treatment Approach for Lifting the Partial Methylation Cycle Block in Chronic Fatigue Syndrome
This is the most recent version of the protocol for the simplified treatment approach, written on March 30, 2011. It is a protocol designed to lift the partial methylation cycle block. While it has been found to help most patients with this disorder, some have not been helped. Richs recommendation is to try this protocol for three months. If it is not producing observable benefit by that time, consideration should be given to changing the protocol, such as by trying methylcobalamin rather than hydroxocobalamin.


1.
IS GLUTATHIONE DEPLETION
AN IMPORTANT PART OF THE
PATHOGENESIS OF
CHRONIC FATIGUE SYNDROME?

by

Richard A. Van Konynenburg, Ph.D.
(Independent Researcher)

richvank@aol.com


AACFS Seventh International Conference
Madison, Wisconsin
October 8-10, 2004



WHAT IS GLUTATHIONE?
[Refs. 1--5]

A tripeptide composed of the amino acids glutamic acid, cysteine, and glycine. Its molecular weight is 307.33 Da.

Found in all cells in the body, in the bile, in the epithelial lining fluid of the lungs, and, at much smaller concentrations, in the blood.

The predominant nonprotein thiol (molecule containing an S-H or sulfhydryl group) in cells.

Its active form is the chemically reduced form, called "GSH."

GSH is compartmentalized, with concentrations ranging from 0.5 to 10 millimolar in various organs and cell types.

GSH serves as a substrate for enzymes, including the glutathione peroxidases and the glutathione-S-transferases.

When oxidized, two glutathione molecules join together via a disulfide bond to form "oxidized glutathione," or "glutathione disulfide," referred to as "GSSG."

Inside cells, the concentration of GSSG is normally maintained at less than 1% of total glutathione by the enzyme glutathione reductase, which is powered by NADPH, produced by the pentose phosphate shunt, part of normal carbohydrate metabolism.


WHAT ARE SOME OF THE FUNCTIONS OF GLUTATHIONE (GSH)?
[Refs. 1--5]

Maintains proper oxidation-reduction (redox) potential inside cells. Redox affects the oxidation state of sulfur in enzymes, and thus affects the rates of biochemical reactions in cells.

Scavenges peroxides and oxidizing free radicals directly and also serves as the basis for the antioxidant network.

Performs Phase II detoxication of heavy metals (such as mercury), organophosphate pesticides, chlorinated hydrocarbon solvents, estradiol, prostaglandins, leukotrienes, acetaminophen, and other foreign and endogenous toxins.

Stores and transports cysteine throughout the body.

Transports amino acids, especially cystine into kidney cells.

Regulates the cell cycle, DNA and protein synthesis and proteolysis, and gene expression.

Regulates signal transduction.

Participates in bile production.

Protects thyroid cells from self-generated hydrogen peroxide.

In carrying out several of the above functions, GSH plays very important roles in (1) maintaining mitochondrial function and integrity, (2) regulating cell proliferation, and (3) supporting the immune system.

HOW IS GLUTATHIONE (GSH) SYNTHESIZED IN THE BODY?
[Refs. 1--5]

GSH is synthesized inside cells by a two-step process. The first step involves the ATP-powered enzyme glutamate cysteine ligase (formerly called gamma-glutamylcysteine synthetase). This step is normally the rate-limiting reaction, and is controlled by the cellular redox state and feedback inhibition, among other factors. The second step makes use of the ATP-powered enzyme glutathione synthetase.

The necessary substrates are cysteine (which is often the rate-limiting substrate when GSH is depleted), glutamic acid (or glutamine) and glycine. Cysteine and glutamic acid are joined together in the first step, and glycine is added in the second step.

The liver is the main producer and exporter of GSH.

A few epithelial cell types can import GSH molecules intact.

Most cell types use the gamma glutamyl (or GSH scavenging) cycle. This cycle makes use of the plasma-membrane-bound exoenzymes gamma-glutamyl transpeptidase and dipeptidase. This cycle disassembles GSH outside the cell and imports the parts for reassembly inside. It also serves as a transport mechanism to bring other amino acids into the cell, cystine
(di-cysteine) being favored.


IS GLUTATHIONE DEPLETED IN CHRONIC FATIGUE SYNDROME?

There is considerable evidence that GSH is depleted in at least a substantial fraction of CFS patients. Here are the results of all the published studies that bear on this question:

GSH depletion in CFS was first suggested by Droge and Holm [6].
Cheney [7,8] reported that his CFS clinical patients were almost universally low in GSH.
Richards et al. [9] found that patients could be divided statistically into two distinct groups, one having significantly elevated erythrocyte GSH relative to a healthy control group, and the other having significantly lower values.
Fulle et al. [10] found elevated total (reduced plus oxidized) glutathione in muscle biopsy specimens from PWCs relative to healthy controls, but they did not report values for reduced glutathione alone.
Manuel y Keenoy et al. [11] found that a subgroup of fatigued patients with low magnesium, which did not improve with supplementation, had significantly lower GSH.
Manuel y Keenoy et al. [12] did not find a significant difference between CFS patients and fatigued controls in terms of whole-blood GSH, but they did not compare with a healthy control group.
Kennedy et al. [13] found significantly lower red blood cell GSH in PWCs compared to healthy controls (p=0.05).
Kurup and Kurup [14] found significantly lower red blood cell GSH in myalgic encephalomyelitis patients compared to healthy controls (p<0.01).

IN THE GENERAL POPULATION, WHAT FACTORS OR CONDITIONS ARE KNOWN TO CAUSE DECREASES IN INTRACELLULAR GLUTATHIONE CONCENTRATIONS?

These factors and conditions can be divided into three groups:

The first group is made up of those that (1) lower the rate of GSH synthesis or the rate of reduction of GSSG to GSH, or (2) raise the rate of export of GSH from cells, or (3) lead to loss of GSH from the scavenging pathway. This group includes the following: genetic defects [15], elevated adrenaline secretion [16-20] due to various types of stress, deficient diet [1] or fasting [21], surgical trauma [21,22], burns [23], and morphine [24].

The second group is comprised of toxins that conjugate GSH and remove it from the body [25], such as organophosphate pesticides, halogenated solvents, tung oil (used on furniture), acetaminophen and some types of inhalation anesthesia.

The third group is comprised of conditions that raise the production rates of reactive oxygen species high enough to produce oxidative stress, causing cells to export GSSG. These include strenuous or extended exercise [26], infections (producing leukocyte activation) [21], toxins that produce oxidizing free radicals during Phase I detoxication by cytochrome P450 enzymes [21], ionizing radiation [27], iron overload [28], and ischemia--reperfusion events (such as stroke, cardiac arrest, subarachnoid hemorrhage, and head trauma) [29].



STRESS, DISTRESS, AND STRESSORS

For purposes of this presentation, stressors are defined in the broad sense as events, circumstances or conditions that place demands on a person and tend to move his or her body out of allostatic balance. Allostasis is similar to homeostasis, but allows for changes in the set-point over time to match life circumstances [30]. Stressors can be classified as physical, chemical, biological, or psychological/emotional.

Stress is the state that results from the presentation of such demands. Selye [31] defined stress as "the state manifested by a specific syndrome which consists of all the nonspecifically-induced changes within a biologic system." Although Selye emphasized the nonspecifically-induced responses, the body also exhibits specific responses that depend on the type of stress [32].

Stress can be of a beneficial or a destructive nature. Distress is the destructive type of stress [31].

The perceived stress that people experience depends not only on the stressors to which they are subjected, but also on "their appraisals of the situation and cognitive and emotional responses to it." [33]

A person's history of both the occurrence of stressors and of the degree of perceived stress can be evaluated by structured interviews, and this has been done in a number of studies of CFS risk factors [34-45].



IS THERE EVIDENCE FOR HIGHER OCCURRENCE OF STRESSORS IN CFS PATIENTS PRIOR TO ONSET THAN IN HEALTHY NORMAL CONTROLS?

YES. The types of stressors found to have higher occurrence in one or more CFS risk factor studies [34-45] include the following:
Physical: Aerobic exercise (especially of long duration), physical trauma (especially motor vehicle accidents) and surgery (including anesthesia).
Chemical: Exposure to toxins such as organophosphate pesticides, solvents and ciguatoxin.
Biological: Infections, immunizations, blood transfusions, insect bites, allergic reactions, and eating or sleeping less.
Emotional/Psychological:
Stressful life events, including death of a spouse, close family member or close friend; recent marriage; troubled or failing marriage, separation, or divorce; serious illness in immediate family; job loss, starting new job, or increased responsibility at work; and residential move.
Difficulties, including ongoing problems with relationships, persistent work problems or financial problems, mental or physical violence, overwork, extreme sustained activity, or "busyness."
Dilemmas "A dilemma is a situation in which a person is challenged to choose between two equally undesirable alternatives."[45] Choosing inaction in response to a dilemma leads to further negative consequences.
Problems in childhood, including significant depression or anxiety, alcohol or other drug abuse, and/or physical violence in parents or other close family members; physical, sexual or verbal abuse, low self-esteem and chronic tension or fighting in the family.

IS THERE EVIDENCE FOR HIGHER PERCEIVED STRESS IN CFS PATIENTS PRIOR TO ONSET, COMPARED TO HEALTHY CONTROLS?

YES. Three studies [34, 37, 38] found that CFS patients rated their level of perceived stress prior to onset higher than did healthy, normal controls for a similar period of time.



IS IT SURPRISING THAT GLUTATHIONE BECAME DEPLETED IN MANY CFS PATIENTS?

NO. In view of the strong correspondence between the results of the CFS risk factor studies and the known GSH depletors, it is not surprising. It appears that the CFS patients who were studied had undergone a variety of factors and conditions that are known to deplete glutathione, and had also experienced high levels of perceived stress as a result.



HOW DOES THE NEUROENDOCRINE SYSTEM RESPOND TO STRESS?

This system manifests both specifically- and nonspecifically-induced responses to stress [32]. The nonspecifically-induced responses address the combined load of all the various types of stress that are being experienced simultaneously.

The nonspecific responses are mediated by three parts of this sytem: (1) the hypothalamus-pituitary-adrenal (HPA) axis, which produces cortisol and other glucocorticoids, (2) the sympathetic-adrenomedullary system, which produces epinephrine (adrenaline), and (3) the sympathoneural system, which produces norepinephrine (noradrenaline) [32].

Rapid-onset CFS patients report that they had a normal response to stress prior to their onset of CFS. Therefore, it can be surmised that if they experienced a high load of combined long-term stress lasting a few months to several years prior to their onset, they were subject to high levels of both cortisol and adrenaline during this extended period of time.

Note that depleted rather than elevated cortisol levels are frequently observed clinically in CFS patients (Cleare [46]). However, the decrease in cortisol secretion occurs later in the pathogenesis: "the bulk of the data assembled to date is compatible with the view that the disruption in adrenocortical function is a late finding, and that elucidating the status of the central nervous system components which drive the regulation of the HPA axis would be crucial to a more complete understanding of this final event." (Demitrack [47])

WHAT ARE THE EFFECTS OF ELEVATED LEVELS OF CORTISOL AND ADRENALINE ON THE IMMUNE SYSTEM AND ON GLUTATHIONE LEVELS?

Elevation of cortisol is known to suppress the inflammatory response by several mechanisms, including decreasing the expression of cytokines and cell adhesion molecules, and decreasing the production of prostaglandins and leukotrienes [48]. This effect is beneficially used therapeutically in many cases, but it can also have a down side if an infection is present.

Elevation of cortisol is also known to suppress cell-mediated immunity and to cause a shift to the Th2 type of immune response. Several mechanisms are involved, including suppressing the secretion of IL-1 by macrophages, inhibiting the differentiation of monocytes to macrophages, inhibiting the proliferation of T lymphocytes, and increasing the production of endonucleases, which increases the rate of apoptosis of lymphocytes [33,48].

Long-term elevation of adrenaline can be expected to deplete GSH, because adrenaline decreases the rate of synthesis of glutathione by the liver (Estrela et al. [18]), increases its rate of export from the liver (Sies and Graf [16]; Haussinger et al. [17]; Estrela et al. [18]), and decreases the rate of reduction (recycling) of oxidized glutathione (Toleikis and Godin [19]).

HOW DO VIRAL INFECTIONS ARISE AT THE ONSET OF CHRONIC FATIGUE SYNDROME?

I propose that glutathione depletion is the trigger for reactivation of endogenous latent viruses in CFS (hypothesis).

Here's the support for this hypothesis:
Most of the evidence points to reactivation of latent endogenous viruses at the onset of CFS, rather than new, primary infections (Komaroff and Buchwald [49])
Infections by members of the Herpes family of viruses, such as Epstein-Barr virus and HHV-6 are commonly found in CFS patients [49].
GSH depletion is associated with the activation of several types of viruses [50-53], including Herpes simplex type 1 (HSV-1) [54]. Raising the GSH concentration inhibits replication of HSV-1 by blocking the formation of disulfide bonds in glycoprotein B, a protein that is necessary for proliferation of the virus [54].
Glycoprotein B is also found in all other Herpes family viruses studied, including EBV and CMV [55], and very likely is present also in HHV-6 and performs the same vital function there (hypothesis).

It thus appears very likely that GSH depletion is the trigger for the reactivation of the latent forms of all the Herpes family viruses. Since glutathione likely becomes depleted prior to the onset of CFS, and since infections by these viruses are commonly found in CFS, it seems likely that glutathione depletion initiates the viral infections at the onset of CFS (hypothesis).

CAN ELEVATED CORTISOL AND DEPLETED GLUTATHIONE EXPLAIN THE IMMUNE DYSFUNCTIONS?
YES.
The shift to the Th2 immune response, as observed in CFS [56], is a known effect of both elevated cortisol [57] and of depleted GSH [58, 59]. I suggest that elevated cortisol produces the shift initially, and that GSH depletion maintains it later, after the cortisol level drops due to later blunting of the HPA axis.
The following dysfunctions seen in CFS [60] are known effects of depleted GSH: lowered natural killer cell and cytotoxic T cell cytotoxicity; inability of T cells to proliferate, as seen in decreased mitogen-induced proliferative response of lymphocytes and decrease in delayed-type hypersensitivity [61].

In addition, I hypothesize the following:
The observed chronic immune activation [60] and the observed continuous activation of the RNase-L pathway in CFS [60] result from the failure of cell-mediated immunity to defeat detected infections, owing to the above effects of GSH depletion.
The observed low molecular weight RNase-L [62] results from lack of inhibition of caspases because of thiol (GSH) depletion, and they cleave the RNase-L.
The observed elevated numbers of immune complexes [60] result from the shift to the Th2 response, which produces elevated levels of antibodies.
The observed elevation in antinuclear antibodies [60] results from the observed higher rate of apoptosis [63-66], which is caused by GSH depletion [67].
HOW DOES PHYSICAL FATIGUE ARISE AT THE ONSET OF CFS?

(HYPOTHESIS)
When the immune system detects the viral infection, it becomes activated.
In attempting to proliferate, the lymphocytes draw upon the already depleted supplies of GSH and its precursor, cysteine (or cystine).
Being in the blood, the lymphocytes have earlier access to GSH and cysteine than do the skeletal muscles.
Competition in CFS between the immune system and the skeletal muscles for these substances has already been hypothesized by Bounous and Molson [68], and I agree with their hypothesis.
The skeletal muscles become more depleted in GSH.
This produces a rise in their concentrations of peroxynitrite. (Peroxynitrite forms from superoxide and nitric oxide. Superoxide becomes elevated because the depletion of GSH causes a rise in hydrogen peroxide, and this exerts product inhibition on the superoxide dismutase reaction, causing superoxide levels to rise.)
As Pall [69] has stated, "Peroxynitrite reacts with and inactivates several of the enzymes in mitochondria so that mitochondrial and energy metabolism dysfunction is one of the most important consequences of elevated peroxynitrite."
The resulting partial blockades in the Krebs cycles and the respiratory chains in the red, slow-twitch skeletal muscle cells decrease their rate of production of ATP. Since ATP is what powers muscle contractions, the lack of it produces physical fatigue. It becomes chronic because GSH remains depleted.

SINCE GLUTATHIONE IS AT THE BASIS OF THE BODY'S ANTIOXIDANT SYSTEM, ITS DEPLETION CAN BE EXPECTED TO PRODUCE OXIDATIVE STRESS. HAS THIS BEEN OBSERVED IN CFS?

YES. Oxidative stress is now well-established in CFS.
The following researchers have presented evidence for oxidative stress in CFS:
Ali [70,71]
Cheney [7,8]
Richards et al. [9,72]
Fulle et al. [10]
Manuel y Keenoy et al. [11,12]
Vecchiet et al. [73]
Kennedy et al. [13]
Smirnova and Pall [74]

WHAT EFFECTS DO ELEVATED CORTISOL AND DEPLETED GLUTATHIONE HAVE ON BRAIN FUNCTION, AND ARE THEY OBSERVED IN CFS?

Long-term cortisol elevation is known to damage the hippocampus, and GSH depletion is involved [75].
Additional depletion of GSH would likely exacerbate the effects of elevated cortisol on the hippocampus.
The hippocampus is involved with memory, sleep, and control of the HPA axis.
Deficits in all these areas are seen in CFS.
Examination of the hippocampus in CFS by magnetic resonance spectroscopy suggested significantly lower metabolism in the right hippocampus [76].
It seems likely that elevated cortisol and depleted GSH account for at least some of the CFS brain function deficits.

SINCE GLUTATHIONE NORMALLY REMOVES MERCURY FROM THE BODY, ITS DEPLETION CAN BE EXPECTED TO ALLOW BUILDUP OF MERCURY IN CFS PATIENTS. IS THIS OBSERVED?

YES. While there are no published controlled studies of mercury level testing in CFS patients, several clinicians who specialize in treating CFS have reported that many of their patients have high mercury levels:

Ali [77]
Godfrey [78]
Conley [79]
Poesnecker [80]
Teitelbaum [81]
Corsello [82]
Goldberg [83]

In addition, immune testing has shown significantly elevated hypersensitivity to mercury in many CFS patients (Stejskal et al., [84]; Sterzl et al., [85]; and Marcusson, [86]). This suggests that the immune system has responded to elevated mercury levels.

(Note that there have been epidemiological studies that showed no evidence that dental amalgams are associated with CFS as a causal factor [87,88]. However, this does not constitute evidence that amalgams do not give rise to elevated mercury levels after CFS onset in people who have amalgams and who may have developed CFS as a result of other causes.)

CAN GLUTATHIONE DEPLETION EXPLAIN AUTOIMMUNE THYROIDITIS IN CHRONIC FATIGUE SYNDROME?

YES.

It is known that thyroid cells normally produce hydrogen peroxide to oxidize iodide ions as part of the pathway for producing thyroid hormones. Normally, this oxidation occurs outside the cell membrane, and the interior of the cell is protected from the hydrogen peroxide by intracellular GSH [89].

It has been shown by Duthoit et al., [90] that if hydrogen peroxide is allowed to enter thyroid cells, it will attack and cleave thyroglobulin, producing C-terminal fragments that can diffuse into other cells and are recognized by autoantibodies from patients with autoimmune thyroid disease. This suggests that hydrogen peroxide entry into thyroid cells may be the cause of this disease.

It has been shown by Wikland et al. [91], using fine needle aspiration cytology, that about 40% of patients suffering from chronic fatigue show evidence of chronic autoimmune thyroiditis, even though TSH levels were in the normal range in many of them.

HYPOTHESIS: It seems likely that GSH depletion accounts for the high prevalence of autoimmune (Hashimoto's) thyroiditis in CFS.


WHY IS CFS MORE PREVALENT IN WOMEN THAN IN MEN?


It has been found recently that the monthly menstrual cycle in women presents an additional demand on GSH that does not occur in men. 17-beta estradiol is elevated in women from the late follicular phase through the early luteal phase of the cycle. This hormone stimulates the activity of the enzyme glutathione peroxidase [92].

Perhaps this occurs to protect against elevated production of reactive oxygen species generated during the rapid growth of the endometrium.

The resulting reactions depress the endometrial GSH level during the time the estradiol level is high [92].

HYPOTHESIS: I propose that this additional estradiol-driven demand for GSH in women exacerbates the GSH depletion that occurs as a result of other causes, and that this makes women more vulnerable to developing CFS, accounting for the higher observed prevalence of CFS in women than in men.


WHAT APPROACHES HAVE BEEN USED TO BUILD GLUTATHIONE?

Diet high in sulfur-containing amino acids (as in animal-based protein, such as milk, eggs and meat) and antioxidants (as in fresh fruits and vegetables) [93].
Diet high in GSH, e.g. fresh fruits and vegetables and meats [94].
Curcumin [95].
N-acetylcysteine together with glutamic acid (or glutamine) and glycine [96], or NAC together with dietary protein [97].
Non-denatured whey protein [98]
Oral reduced glutathione [4]
Intravenous reduced glutathione [99]
Intramuscular reduced glutathione [100]
Transdermal reduced glutathione skin cream or lotion [101]
Sublingual reduced glutathione troches [102]
Reduced glutathione rectal suppositories [103]
Reduced glutathione aerosol [104]
Reduced glutathione nasal spray [105]



HAS GLUTATHIONE REPLETION BEEN USED CLINICALLY IN CFS, AND IF SO, WHAT HAVE BEEN THE RESULTS?


YES.

Patricia Salvato, M.D. [100] has used intramuscular injections of GSH combined with ATP clinically for several years. In 1998 she reported on a study of 276 CFS patients, using 100 mg of GSH and 1 mg of ATP weekly. After 6 months of treatment, 82% experienced improvement in fatigue, 71% experienced improvement in memory and concentration, and 62% experienced improvement in levels of pain.

Paul Cheney, M.D. reported in 1999 [7,8] on his clinical use of oral undenatured whey protein in CFS patients. The dosage varied with different patients, up to 40 grams per day. He reported that several of his patients improved on this treatment, and some who had had active infections with herpes family viruses, mycoplasma, or chlamydia were cleared of them by this treatment.

John S. Foster, M.D. and his colleagues reported in 2002 [99] on their use of GSH in an intravenous fast push (over 2 to 3 minutes). Dosage ranged up to 2,500 mg, 1 or 2 times weekly, as part of a detoxification protocol used on a variety of patients, including some with CFS. They reported that the treatment "has been promising in addressing neurodegenerative and neurotoxic disorders."


CONCLUSION

Glutathione depletion indeed appears to be an important aspect of the pathogenesis of chronic fatigue syndrome for at least a substantial fraction of patients.

Is repletion of glutathione likely to be the complete answer for treating CFS?

No. GSH depletion occurs near the beginning of the complex pathogenesis of CFS. There are likely to be many interactions and vicious circles as the pathogenesis develops into the pathophysiology, and there may also be damage that is difficult to correct. The mediators of such damage would likely be infections, toxins and reactive oxygen species, all of which are able to build up because of the depletion of GSH. It is likely that a multifaceted treatment protocol will be necessary.

There are also some cautions that should be exercised:
When GSH repletion is begun in patients who have been GSH-depleted for extended periods of time, their immune and detoxication systems can begin to function at higher levels of performance. If their bodies have accumulated elevated levels of toxins (especially mercury) and infections, glutathione repletion can cause significant Herxheimer-type reactions as pathogens are killed and toxins are mobilized. Care should be taken to proceed slowly and cautiously in such cases in order to avoid moving toxins into the central nervous system or exacerbating symptoms to a level that is intolerable to the patient.
Plasma cysteine level should be monitored periodically when repleting glutathione, to ensure that it does not rise to levels that could be neurotoxic [106].

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56. Skowera, A., Cleare, A., Blair, D., Bevis, L., Wessely, S.C., and Peakman, M., High levels of type 2 cytokine-producing cells in chronic fatigue syndrome, Clin. Exp. Immunol. (2004) 135:294-302.
57. Elenkov, I.J., Glucocorticoids and the Th1/Th2 balance, Ann. N.Y. Acad. Sci. (2004) 1024:138-46.
58. Peterson, J.D., Herzenberg, L.A., Vasquez, K., and Waltenbaugh, C., Glutathione levels in antigen-presenting cells modulate Th1 versus Th2 response patterns, Proc. Natl. Acad. Sci. USA (1998) 95:3071-3076.
59. Murata, Y., Shimamura, T., and Hamuro, J., "The polarization of Th1/Th2 balance is dependent on the intracellular thiol redox status of macrophages due to the distinctive cytokine production, Internat. Immunol. (2002) 14(2):201-212.
60. Maher, K.J., Klimas, N.G., and Fletcher, M.A., Immunology, chapter 7 in Handbook of Chronic Fatigue Syndrome (2003), L.A. Jason, P.A. Fennell, and R.R. Taylor, eds., Wiley, Hoboken, NJ, pp. 124-151.
61. Droge, W., and Breitkreutz, R., Glutathione and immune function, Proc. Nutr. Soc. (2000) 59:595-600.
62. Suhadolnik, R.J., Peterson, D.L., O'Brien, K., Cheney, P.R., Herst, C.V.T., Reichenbach, N.L., Kon, N., Horvath, S.E., Iacono, K.T., Adelson, M.E., De Meirleir, K., De Becker, P., Charubala, R., and Pfleiderer, W., Biochemical evidence for a novel low molecular weight 2-5A-dependent RNase-L in chronic fatigue syndrome, J. Interferon and Cytokine Research (1997) 17:377-385.
63. Vojdani, A., Ghoneum, M., Choppa, P.C., Magtoto, L., and Lapp, C.W., Elevated apoptotic cell population in patients with chronic fatigue syndrome: the pivotal role of protein kinase RNA, J. Internal Med. (1997) 242:465-478.
64. See, D.M., Cimoch, P., Chou, S., Chang, J., and Tilles, J., The in vitro immunomodulatory effects of glyconutrients on peripheral blood mononuclear cells of patients with chronic fatigue syndrome, Integr. Physiol. Behav. Sci. (1998) 33(3):280-287.
65. Krueger, G.R., Koch, B., Hoffmann, A., Roho, J., Brandt, M.E., Wang, G., and Buja, L.M., Dynamics of chronic active herpesvirus-6 infection in patients with chronic fatigue syndrome: data acquisition for computer modeling, In Vivo (2001) 15(6):461-465.
66. Kennedy, G., Spence, V., Underwood, C., and Belch, J.J., Increased neutrophil apoptosis in chronic fatigue syndrome, J. Clin. Pathol. (2004) 57(8):891-893.
67. Bains, J.S., and Shaw, C.A., Neurodegenerative disorders in humans: the role of glutathione in oxidative stress-mediated neuronal death, Brain Res. Brain Res. Rev. (1997) 25(3):335-358.
68. Bounous, G., and Molson, J., Competition for glutathione precursors between the immune system and the skeletal muscle: pathogenesis of chronic fatigue syndrome, Medical Hypotheses (1999) 53(4):347-349.
69. Pall, M., Elevated, sustained peroxynitrite levels as the cause of chronic fatigue syndrome, Medical Hypotheses (2000) 54(1):115-125.
70. Ali, M., Ascorbic acid reverses abnormal erythrocyte morphology in chronic fatigue syndrome (abstract), Am. J. Clin. Pathol. (1990) 94:515.
71. Ali, M., Hypothesis: chronic fatigue is a state of accelerated oxidative molecular injury, J. Advancement in Medicine (1993) 6(2):83-96.
72. Richards, R.S., Roberts, T.K., McGregor, N.R., Dunstan, R.H., Butt, H.L., Blood parameters indicative of oxidative stress are associated with symptom expression in chronic fatigue syndrome, Redox Report (2000) 5(1):35-41.
73. Vecchiet, J., Cipollone, F., Falasca, K., Mezzetti, A., Pizzigallo, E., Bucciarelli, T., De Laurentis, S., Affaitati, G., De Cesare, D., Giamberardino, M.A., Relationship between musculoskeletal symptoms and blood markers of oxidative stress in patients with chronic fatigue syndrome, Neuroscience Letters (2003) 335:151-154.
74. Smirnova, I.V., and Pall, M.L., Elevated levels of protein carbonyls in sera of chronic fatigue syndrome patients, Molecular and Cellular Biochemistry (2003) 248:93-95.
75. Patel, R., McIntosh, L., McLaughlin, J., Brooke, S., Nimon, V., and Sapolsky, R., Disruptive effects of glucocorticoids on glutathione peroxidase biochemistry in hippocampal cultures, J. Neurochem. (2002) 82:118-125.
76. Brooks, J.C., Roberts, N., Whitehouse, G., and Majeed, T., Proton magnetic resonance spectroscopy and morphometry of the hippocampus in chronic fatigue syndrome, Brit. J. Radiol. (2000) 73:1206-1208.
77. Ali, M., The Canary and Chronic Fatigue (1995), Life Span Press, Denville, NJ, p. 305.
78. Godfrey, M.E., Dental amalgam, letter to the editor, New Zealand Medical Journal (28 Aug 1998) 111:326.
79. Conley, E.J., America Exhausted (1998), Vitality Press, Flint, MI, p. 196.
80. Poesnecker, G.E., Chronic Fatigue Unmasked 2000 (1999), Humanitarian Publishing Co., Quakerstown, PA, p. 210.
81. Teitelbaum, J., From Fatigued to Fantastic (2001), Penguin Putnam, New York, p. 189.
82. Corsello, S., Review of the multiple factors (loading theory) in the pathogenesis of chronic fatigue syndrome: theoretical review and treatment, conference syllabus, Latest 21st Century Medical Advances in the Diagnosis and Treatment of Fibromyalgia, Chronic Fatigue Syndrome and Related Illnesses, Sept. 19-21, 2002, Los Angeles, CA, Advanced Medical Conferences International, Chicago (info@AdMedCon.com).
83. Goldberg, B., and Trivieri, L., Jr., eds., Chronic Fatigue, Fibromyalgia, and Lyme Disease, second edition (2004) Celestial Arts, Berkeley, CA, p. 175.
84. Stejskal, V.D., Danersund, A., Lindvall, A., Hudecek, R., Nordman, V., Yaqob, A., Mayer, W., Bieger, W, and Lindh, U., Metal-specific lymphocytes: biomarkers of sensitivity in man, Neuroendocrinol. Lett. (1999) 20(5):289-298.
85. Sterzl, I., Prochazkova, J., Hrda, P., Bartova, J., Matucha, P., and Stejskal, V.D., Mercury and nickel allergy: risk factors in fatigue and autoimmunity, Neuroendocrinol. Lett. (1999) 20(3-4):221-228.
86. Marcusson, J.A., The frequency of mercury intolerance in patients with chronic fatigue syndrome and healthy controls, Contact Dermatitis (1999) 41(1):60-61.
87. Yip, H.K., Li, D.K., and Yau, D.C., Int. Dent. J. (2003) 53(6):464-8.
88. Bates, M.N., Fawcett, J., Garrett, N., Cutress, T., and Kjellstrom, T., Health effects of dental amalgam exposure: a retrospective cohort study, Int. J. Epidemiol. (2004) 33:1-9.
89. Ekholm, R., and Bjorkman, U., Glutathione peroxidase degrades intracellular hydrogen peroxide and thereby inhibits intracellular protein iodination in thyroid epithelium, Endocrinology (1997) 138:2871-2878.
90. Duthoit, C., Estienne, V., Giraud, A., Durand-Gorde, J.M., Rasmussen, A.K., Feldt-Rasmussen, U., Carayon, P., Ruf, J., Hydrogen peroxide-induced production of a 40 kDa immunoreactive thyroglobulin fragment in human thyroid cells: the onset of thyroid autoimmunity?, Biochem. J. (2001) 360(Pt 3):557-562.
91. Wikland, B., Lowhagen, T., and Sandberg, P.O., Fine-needle aspiration cytology of the thyroid in chronic fatigue, Lancet (2001) 357(9260):956-7.
92. Serviddio, G., Loverro, G., Vicino, M., Prigigallo, F., Grattagliano, I., Altomare, E., and Vendemiale, G., Modulation of endometrial redox balance during the menstrual cycle: relation with sex hormones, J. Clin. Endocrinol. Metab. (2002) 87(6):2843-2848.
93. Van Konynenburg, R.A., Nutritional approaches, chapter 27 in Handbook of Chronic Fatigue Syndrome (2003), L.A. Jason, P.A. Fennell, and R.R. Taylor, eds., Wiley, Hoboken, NJ, pp. 580-653.
94. Jones, D.P., Coates, R.J., Flagg, E.W., Eley, J.W., Block, G., Greenberg, R.S., Gunter, E.W., and Jackson, B., Glutathione in foods listed in the National Cancer Institute's health habits and history food frequency questionnaire, Nutrition and Cancer (1992) 17:57-75.
95. Dickinson, D.A., Iles, K.E., Zhang, H., Blank, V., and Forman, H.J., Curcumin alters EpRE and AP-1 binding complexes and elevates glutamate-cysteine ligase gene expression, FASEB J. (2003) 17(3):473-475.
96. Clark, J. at www.cfsn.com is a proponent and supplier of this combination (for information only, not an endorsement).
97. Quig, D., Cysteine metabolism and metal toxicity, Alternative Medicine Review (1998) 3(4):262-270.
98. Bounous, G., and Gold, P., The biological activity of undenatured dietary whey proteins: role of glutathione, Clin. Invest. Med. (1991) 14(4):296-309.
99. Foster, J.S., Kane, P.C., and Speight, N., The Detoxx Book: Detoxification of Biotoxins in Chronic Neurotoxic Syndromes, Doctor's Guide (2003), available from
http://www.detoxxbox.com.
100. Salvato, P., CFIDS patients improve with glutathione injections, CFIDS Chronicle (Jan/Feb 1998).
101. Two suppliers are http://www.kirkmanlabs.com and http://www.leesilsby.com (for information only, not an endorsement)
102. Schaller, J., M.D. (http://www.personalconsult.com).
103. One supplier is Hopewell Pharmacy in New Jersey (for information only, not an endorsement).
104. Buhl, R., Vogelmeier, C., Critenden, M., Hubbard, R.C., Hoyt, R.F., Jr., Wilson, E.M., Cantin, A.M., and Crystal, R.G., Augmentation of glutathione in the fluid lining the epithelium of the lower respiratory tract by directly administering glutathione aerosol, Proc. Natl. Acad. Sci. USA (1990) 87:4063-4067.
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106. Janaky, R., Varga, V., Hermann, A., Saransaari, P., Oja, S.S., Mechanisms of L-cysteine neurotoxicity, Neurochem. Res. (2000) 25(9-10):1397-1405.


2.
February 21, 2006



Chronic Fatigue Syndrome and Autism

by
Richard A. Van Konynenburg, Ph.D.
(richvank@aol.com)


For the past ten years I have been studying chronic fatigue syndrome as an independent researcher. Over the course of several years I developed a hypothesis for the pathogenesis of this disorder that prominently featured the depletion of glutathione. I presented a poster paper on this hypothesis at the AACFS (now the International Association for Chronic Fatigue Syndrome) meeting in October, 2004, in Madison, Wisconsin. This paper can be found at the following url:

http://www.cfsresearch.org/cfs/research/treatment/15.htm

Anecdotal experience of people with CFS who acted upon my hypothesis suggested that while some were able to raise their glutathione levels by various means and experienced benefit from doing so, others were not able to do so. At the time I wrote my poster paper, I was aware of this, and I acknowledged in the conclusions of the paper that there appeared to be factors that were blocking the raising of glutathione in CFS. At that time, I was not sure specifically what they were. I also knew that there was evidence for a genetic predisposition in CFS, but I did not know the details of the genetic variations involved.

Shortly after that, I became aware of the work of S. Jill James et al. in autism (American Journal of Clinical Nutrition 2004 Dec; 80(6):1611-7). They found that glutathione was also depleted in autistic children, that this was associated with a partial block in the methylation cycle (also called the methionine cycle), that this partial block was associated with genetic variations in the genes for certain enzymes and other proteins associated with the sulfur metabolism, and that it interfered with the synthesis of glutathione. They also found that by using certain supplements (methylcobalamin, folinic acid and trimethylglycine) they could lift the block in the methylation cycle and restore the glutathione level.

Upon learning of this work, I became very interested in possible parallels between chronic fatigue syndrome and autism. I attended the conference of the Defeat Autism Now! (DAN!) project in Long Beach, California in October, 2005, sponsored by the Autism Research Institute, headed by Dr. Bernard Rimland. As a result I became convinced that the genetic predisposition found in autism must be the same or similar to that in a major subset of chronic fatigue syndrome, and that the resulting biochemical abnormalities were also the same or similar. As far as I know, the genetic variations in people with chronic fatigue syndrome have not yet been studied in detail or published, but I am optimistic that this will occur soon, because of the rapid advances in the technology for doing so, and because of the current active interest of at least three groups in the U.S. and the U.K. in genomic aspects of CFS.

There are obviously major differences between chronic fatigue syndrome and autism. I believe that these result primarily from the different ages of onset. Autistic children experience onset early in life, before their brains are fully developed. I believe that this gives rise to the very different brain-related symptoms seen in autistic children from those seen in adults with CFS. However, there are many similarities in the biochemistry and symptoms of these two disorders as well, including oxidative stress, buildup of toxins, immune response shift to Th2, and gut problems, for examples.

The triggering factors for autism and chronic fatigue syndrome are also largely different. Although this subject remains controversial, there appears to be substantial evidence that vaccinations (containing either a mercury-based preservative or live viruses, many given within a short period of time) were responsible for triggering many of the cases of autism in genetically-susceptible children (D. Geier and M.R. Geier, International Journal of Toxicology 2004 Nov-Dec; 23(6):369-76; and A.J. Wakefield, several publications beginning in 1997).
In CFS, a variety of triggering factors (physical, chemical, biological, or psychological/emotional) have been found to be involved in various cases, as reviewed in my poster paper, cited above. All these factors have in common that they place a demand on glutathione.

It appears that genetically susceptible persons are unable to maintain normal glutathione levels when the total demand for it is high, and that once glutathione drops sufficiently in a genetically susceptible person, the sulfur metabolism becomes disrupted. In many cases the methylation cycle (part of the sulfur metabolism) becomes partially blocked, and the result can be a depletion of some or all of several important sulfur-containing metabolites, including S-adenosylmethionine (SAMe), cysteine, glutathione, taurine and sulfate. A vicious circle is thus formed, and the depletion in these metabolites causes an avalanche of pathogenesis, since they all have very important functions in the body. I think that much of this pathogenesis is common between autism and CFS. In autism, the loss of methylation capacity because of the drop in SAMe appears to be responsible for much of the interference with normal brain development.

There is also a major difference in the sex ratio between autism and
CFS. In the book mentioned below, Dr. Jon Pangborn discusses possible
reasons why autism is more prevalent in boys. In my poster paper, cited
above, I suggested a hypothesis to explain the female dominance in the
prevalence of CFS in adults.

I think that the reason why the people who have developed CFS as adults did not develop autism as children (even though I suspect that they have the same or a similar genetic predisposition) is that when they were children, not as many vaccinations were required. The schedule of vaccinations required for children in the U.S. has grown substantially over the past two or three decades, as has the incidence of autism. This is also true in the U.K.

Shortly after attending the DAN! conference, I also learned of the work of Dr. Amy Yasko, primarily in autism, but extending to a number of other disorders as well. Working independently of the DAN! project, Dr. Yasko develops her treatment recommendations by analyzing the specific gene variations in each patient. In addition to studying effects on the methylation cycle, Dr. Yasko has gone on to consider the effects on associated biochemistry, including folate metabolism, biopterin, the urea cycle and the synthesis of neurotransmitters.

My main message is that a great deal has already been worked out in autism by the researchers and clinicians associated with the Defeat Autism Now! project, and also by Dr. Yasko, and that I believe that the CFS community would benefit greatly by looking carefully at what they have already done. The doctors associated with the DAN! project treat autism by the use of nutritional supplements that compensate for genetic mutations in the sulfur metabolism. These include such supplements as magnesium sulfate, taurine, molybdenum, vitamin B6 and its active form P5P, magnesium, methylcobalamin, folinic acid, trimethylglycine, and dimethylglycine. They also use certain diets, and they perform chelation treatments to remove heavy metals. The results in many autistic children have been astounding, as can be seen in the webcast cited below, where several are interviewed.

Dr. Yasko, in cooperation with Dr. Garry Gordon, uses many of the same supplements as are used by the DAN! project doctors as well as some additional ones, including RNA supplements, and she is also reporting great success.

So I want to encourage everyone who has an interest in CFS to look at the results of the DAN! project and of Dr. Amy Yasko in autism.

To view videos of the talks given at the latest two DAN! conferences on the internet at no cost (unless you are paying for the internet time!), go to this site:

http://www.danwebcast.com

You can choose the more recent Long Beach conference or the earlier Boston conference. They cover much of the same material, but both are worthwhile to watch. If you want to see and hear a good explanation of the methylation cycle research, go to the Boston meeting first, so you will be able to view the talk by Jill James, who did not attend the Long Beach meeting.

After selecting one of the conferences, go to the lower left and register. This is free. They will email a password to you right away, and then you can choose a talk to watch.

Beyond this, I also want to recommend a book entitled Autism: Effective Biomedical Treatments. This is a new book (Sept. 2005). It is by Jon Pangborn, Ph.D. and Sydney Baker, M.D., a biochemist and an autism clinician, respectively. It is available on Amazon for people within the U.S. For people outside the U.S., it can be obtained from the following website by means of PayPal:

http://www.autismresearchinstitute.com

The cost for the book is $30 U.S.

This is an excellent book. It is a reference book, full of good information and good science, explained clearly. This book deals very practically with developing a treatment program for an individual child. I think that most of it will turn out to apply directly to adults with CFS as well.

In addition, I want to recommend the book by Amy Yasko entitled Genetic ByPass. It is available from the website

http://www.longevityplus-rna.com/store/product.php?productid=49

as part of the "Nutrigenomics Educational Starter Packet." The price is $49.95. This is also an excellent book. It discusses treatments specifically tailored to the particular combinations of genetic variations found in different patients.

I think these two books complement each other. I would recommend reading the Pangborn and Baker book first, as it provides a good basis for understanding the technical aspects of the genetics found in the Yasko book.

Although I have been suggesting consideration of the DAN! treatments and the Yasko testing to people with CFS for only a short time, and it is too soon to draw conclusions, early feedback is very encouraging. While I am going out on a limb to some extent in announcing this now, I don't want to wait any longer, because I think this could help a lot of people. Of course, we should all keep in mind that with the current case definition of CFS we have a very heterogeneous population, and the autism treatments will very likely not help everyone who has CFS, but I am convinced that they will help a substantial subset. So I want to encourage those who have CFS and those who treat it to look into this in the strongest way I can. It could be the answer for many of you.

[Disclaimer: I have no financial interest in anything recommended in this article.]
 

richvank

Senior Member
Messages
2,732
Documents by Rich Van Konynenburg, part 2

3.
GLUTATHIONE DEPLETIONMETHYLATION CYCLE BLOCK:

A HYPOTHESIS FOR THE PATHOGENESIS OF CHRONIC FATIGUE SYNDROME

by

Richard A Van Konynenburg, Ph.D.
(Independent Researcher and Consultant)

richvank@aol.com


8th International IACFS Conference on
Chronic Fatigue Syndrome, Fibromyalgia
and other Related Illnesses

Ft. Lauderdale, Florida, U.S.A.
January 10-14, 2007
INTRODUCTION AND HYPOTHESIS


At the Seventh International Conference of the AACFS in 2004, the author proposed and defended the hypothesis that glutathione depletion is an important part of the pathogenesis of CFS (1).

In the conclusions of that paper it was noted that it seemed likely that there are vicious circle mechanisms involved in CFS that prevent glutathione repletion from being the complete answer for treating this disorder.

Recent autism research (2,3) suggests that in that disorder a vicious circle involving the methylation cycle apparently chronically holds down the level of glutathione.

The present author has recently proposed (4) that this same mechanism is active in many cases of CFS. This model for CFS will be referred to as the Glutathione DepletionMethylation Cycle Block (GD-MCB) Hypothesis.

This mechanism appears to be capable of explaining and drawing together numerous features of CFS that have been reported in the peer-reviewed literature.





What is the methylation cycle,
and what does it do?
(See diagram)

The methylation cycle (also called the methionine cycle) (5) is a major part of the biochemistry of sulfur and of methyl (CH3) groups in the body. It is also tightly linked to folate metabolism and is one of the two biochemical processes in the human body that require vitamin B12 (the other being the methylmalonate pathway, which enables use of certain amino acids to provide energy to the cells).

This cycle supplies methyl groups for a large number of methylation reactions, including those that methylate (and thus silence) DNA (6), and those involved in the synthesis of a wide variety of substances, including creatine (7), choline (7), carnitine (8), coenzyme Q-10 (9), melatonin (10), and myelin basic protein (11). Methylation is also used to metabolize the catecholamines dopamine, norepinephrine and epinephrine (12), to inactivate histamine (13), and to methylate phospholipids (14), promoting transmission of signals through membranes.

The role of the methylation cycle in the sulfur metabolism is to supply sulfur-containing metabolites to form a variety of important substances, including cysteine, glutathione, taurine and sulfate, via its connection with the transsulfuration pathway (5).

This cycle balances the demands for methylation and for control of oxidative stress (15)
How is the methylation cycle dysfunctional in autism, and how is this related to
glutathione depletion?


In autism the methylation cycle was found by James et al. (2,3) to be blocked at methionine synthase, which is the step involving methylation of homocysteine to form methionine (see diagram).

Two effects of this block that they measured are a significant decrease in the level of plasma methionine and lowering of the ratio of S-adenosylmethionine to S-adenosylhomocysteine. The latter causes a decreased capacity for promoting methylation reactions (16).

In addition, they found (2,3) that the flow through the transsulfuration pathway (see diagram) was also decreased, resulting in lower plasma levels of cysteine and glutathione and a lowered ratio of reduced to oxidized glutathione, all of which they measured. This lowered ratio reflects a state of oxidative stress (17).

The block in the methylation cycle and the glutathione problem were found to be linked, since supplements used to restore the methylation cycle to normal operation (methylcobalamin, folinic acid and trimethylglycine) also restored the levels of reduced and oxidized glutathione (2).

Do genetic factors contribute to producing this methylation cycle dysfunction in autism?

It is known from studies of twins that genetics plays an important predisposing role in autism (18). The fact that the rate of incidence of autism has increased dramatically in recent years is evidence that there is also an important environmental component in the development of cases of autism (3), since the populations genetic inheritance is relatively constant over much longer periods.

James et al. (3) found that there are measurable genetic differences between children with autism and healthy controls. The differences they measured are associated with genes that encode enzymes and other proteins impacting the methylation cycle, the folate metabolism and the glutathione system.

In particular they found differences in allele frequency and/or significant gene-gene interactions for genes encoding the reduced folate carrier (RFC), transcobalamin II (TCN2), catechol-O-methyltransferase (COMT), methylenetetrahydrofolate reductase (MTHFR), and one of the glutathione transferases (GST M1).

These genetic results, combined with the biochemical observations of dysfunction in the methylation cycle, strongly suggest that variations in genes associated with this cycle and its related biochemistry are involved in the genetic predisposition to developing autism.
What evidence suggests that this same dysfunction and similar genetic factors are also present in chronic fatigue syndrome?


1. Methionine concentrations are reported to be below normal in both plasma (19) and urine (20) in CFS patients. Low methionine can be caused by a methylation cycle block.

2. Four magnetic resonance spectroscopy studies in CFS (21-24) have found elevated choline-to-creatine ratios in various parts of the brain. Both choline and creatine arise partly from the diet and partly from synthesis in the body. Since the syntheses of these two substances are the main users of methylation (7), a methylation deficit would be expected to decrease the rate of synthesis of both of them, and hence to decrease their levels in the cells. When this occurred, it would be unlikely that their ratio would remain the same, since the fractions of each supplied by synthesis would not likely be the same, nor would the decrease in rates of synthesis of these two substances likely to be proportional to their levels in the cells. Since creatine synthesis is the greater user of methylation (7), it might be expected that the choline-to-creatine ratio would increase, as is observed. It therefore appears that a methylation cycle block could explain this well-replicated observation in CFS.

What evidence suggests that this same dysfunction is also present in chronic fatigue syndrome? (continued)


3. Some substances that require methylation for their biosynthesis have been found to be at below-normal levels in CFS patients, and/or patients have been found to benefit by supplementing them. This has been reported in eleven of the studies in CFS of carnitine, beginning with the work of Kuratsune et al. (25-34), both the studies of coenzyme Q10 (35, 36), a study that included choline as phosphatidylcholine in a combination supplement (37), and one recent study of melatonin (38) (though it should be mentioned that earlier studies of melatonin in CFS found normal or elevated levels, and/or did not find benefit from supplementation (see review in ref. 39), suggesting that other issues in addition to the methylation deficit might be involved in the case of melatonin. See Magnesium depletion later in this paper).

4. Vitamin B12, which plays a key role in the methylation cycle and was one of the supplements used to restore this
cycle in the autism work (2), has a long history (39,40) as one of the most helpful of the essential nutrients in CFS when given in high-dosage injections. Lapp and Cheney (41, 42) found that in urine organic acids testing of 100 CFS patients, 33% had elevated homocysteine, 38% had elevated methylmalonate, and 13% had both (29,30). The elevated homocysteine implicates the methylation cycle,
What evidence suggests that this same dysfunction is also present in chronic fatigue syndrome? (continued)

while the elevated methylmalonate indicates that the other pathway that requires vitamin B12 showed deficiency as well. Lapp and Cheney (42) found that 50 to 80% of over 2,000 patients reported benefit from high-dose vitamin B12 injections. Evengard et al. (43) reported that vitamin B12 levels in the cerebrospinal fluid of 10 of 16 CFS patients were below their detection limit of 3.7 pmol/L. Regland et al. (44) found both low vitamin B12 (in 10 out of 12 patients) and high homocysteine (in all 12 patients studied) in the cerebrospinal fluid of CFS patients. There were significant correlations between these parameters and symptoms.

Regland et al. (45) performed an open trial in which they gave 1,000 microgram weekly injections of hydroxocobalamin for at least 3 months to the 10 female patients from this study who had both low B12 and elevated homocysteine. They found that the treatment was significantly more beneficial if the patient did not have the thermolabile allele of the polymorphic gene for MTHFR. They concluded that vitamin B12 deficiency was probably contributing to the increased homocysteine levels. They also found that the effect of vitamin B12 supplementation was dependent on whether the available methyl groups were further deprived by the existence of thermolabile MTHFR. This work implicated the methylation cycle in
What evidence suggests that this same dysfunction is also present in chronic fatigue syndrome? (continued)

the pathogenesis of CFS, and it also pointed to the importance of a genetic component, involving one of the same genes that have been implicated in autism (3).

5. Folinic acid was recently found to produce subjective improvement in symptoms in 81% of 58 CFS patients tested (46). This was also one of the supplements used to restore the methylation cycle in the autism research (2).

6. Many studies have reported evidence for oxidative stress in CFS (47-61).

7. There have been several reports of depletion of reduced glutathione in at least a substantial subset of CFS patients (49-51, 53,54,59,62). Reduced glutathione augmentation is now widely used by CFS clinicians, who have found that augmenting glutathione by various means has been helpful to many of their patients (49,50,63-65).

8. Polymorphisms in the gene coding for the COMT enzyme were found by Goertzel et al. (66) to be some of the most important of those examined for distinguishing CFS cases from controls. As noted earlier, COMT is a methyltransferase, associated with the methylation cycle. In autism, the COMT 472G>A polymorphism showed significant difference between cases and controls (3).
If this same dysfunction is present in both autism and CFS, how can the obvious differences between these two disorders be explained?

Major differences are seen in the gender ratio and in the symptoms of these two disorders.
Autism is found primarily in boys, at a ratio of about 4 to1 (boys to girls) (67), while CFS occurs mainly in adult women at a ratio measured at 1.8 to 1 (women to men) by Jason et al. (68) in one large epidemiological study and 4.5 to 1 (women to men) by Reyes et al. (69) in another.
The most striking symptoms in autism involve the brain and are very characteristic of this disorder. They are described as follows by the Diagnostic and Statistical Manual of Mental Disorders (70):
1. Qualitative impairment in social interaction, as manifested by at least two of the following:
a. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction.
b. Failure to develop peer relationships appropriate to developmental level.
c. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest).
d. Lack of social or emotional reciprocity.
2. Qualitative impairments in communication as manifested by at least one of the following:
a. Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures or mime).
b. In individuals with adequate speech, marked impairments in the ability to initiate or sustain a conversation with others.
c. Stereotyped and repetitive use of language or idiosyncratic language.
d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level.
If this same dysfunction is present in both autism and CFS, how can the obvious differences between these two disorders be explained? (continued)

3. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
a. Encompassing preoccupation with one or more stereotypic and restricted patterns of interest that is abnormal either in intensity or focus.
b. Apparently inflexible adherence to specific, nonfunctional routines or rituals.
c. Stereotypic and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements).
d. Persistent preoccupation with parts of objects.
CFS involves a large variety of symptoms (71,72), the chief ones being extreme fatigue, post-exertional malaise and/or fatigue, sleep dysfunction, muscle pain, and symptoms involving the brain that are significant but less profound than in autism (e.g. cognitive and memory difficulties).

The author proposes that these differences result at least in part from the different ages at onset. Autism develops early in life, before the brain is completely developed and before puberty, while the onset of CFS occurs after brain development is completed and (for the most part) after puberty.

Pangborn (73) has discussed five hypotheses that have been suggested to explain the higher prevalence of autism in boys. Of these, the one that appears to be most consistent with the present authors hypothesis of a common pathogenesis between CFS and autism is the one put forward by Geier and Geier (74). Their hypothesis proposes
If this same dysfunction is present in both autism and CFS, how can the obvious differences between these two disorders be explained? (continued)

that the higher prevalence of autism in boys results from the potentiation of mercury toxicity by testosterone, while estrogen is protective. There is increasing evidence that mercury was a significant factor in the etiology of many cases of autism, because mercury-containing thimerosol was used as a preservative in vaccines given to them. Since thimerosol was removed from childhood vaccines, the number of new cases of neurodevelopmental disorders, including autism, has been found to be dropping (75).

The present author has proposed a hypothesis (76) to explain the higher prevalence of CFS in women, involving an additional bias toward oxidative stress due to redox cycling in the metabolism of estradiol when certain polymorphisms are present.

With regard to symptoms, it seems likely that the role of methylation in the formation of myelin basic protein (77) is at least part of the explanation for the major problems in brain development in autism and the symptoms that result from them.

Fatigue is not recognized to be a major feature of autism. However, it should be noted that the evaluation of fatigue is usually based on self-report, which is not possible in children who are unable to speak. Also, it seems possible
If this same dysfunction is present in both autism and CFS, how can the obvious differences between these two disorders be explained? (continued)


that fatigue may be manifested differently in very young children as compared with adults. Features such as hyperactivity and irritability may reflect fatigue in these patients.

Chronic pain may also be difficult to identify and characterize in children who do not have speech. A recent paper suggests that chronic pain may be the initial presenting symptom in cases of undiagnosed autism (78).

Many of the other phenomena found in CFS are also found in autism, but historically they have not received as much attention in autism as the brain-related symptoms, perhaps because the latter are so striking and profound. Some of the other phenomena that autism has in common with CFS in addition to those already mentioned are elevated proinflammatory cytokines (79), Th2 shift in the immune response (80), low natural killer cell activity (81), mitochondrial dysfunction (82, 83), carnitine deficiency (83), hypothalamus-pituitary-adrenal (HPA) axis dysfunction (84), gut problems (85), and sleep problems (86).



How does the Glutathione DepletionMethylation Cycle Block (GD-MCB) Hypothesis explain other aspects of chronic fatigue syndrome?


Etiology: According to the GD-MCB Hypothesis, CFS is caused by a combination of two factors:
(1) a genetic predisposition (87), which is currently only partly known, and
(2) some combination of a variety of physical, chemical, biological and/or psychological/emotional stressors, the particular combination differing from one case to another (See Ref. 1 for a review.).

So far, polymorphisms in genes coding for the following proteins have been found to be associated with CFS in general or with a subset:

(1) Serotonin transporter (5-HTT) gene promoter (88)
(2) Corticosteroid binding globulin (CBG) (89)
(3) Tumor necrosis factor (TNF) (90)
(4) Interferon gamma (IFN-gamma) (90)
(4) Proopiomelanocortin (POMC) (91)
(5) Nuclear receptor subfamily 3, group C, member 1, glucocorticoid receptor (66,91)
(6) Monoamine oxidase A (MAO A) (91)
(7) Monoamine oxidase B (MAO B) (91)
(8) Tryptophan hydroxylase 2 (TPH2) (66,91)
(9) Catechol-O-methyltransferase (COMT) (66)
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)

In addition, a COMT polymorphism has reported to be associated with fibromyalgia (92, 93), and polymorphisms in the genes for the detoxication enzymes CYP2D6 (cytochrome P450 2D6) and NAT2 (N-acetyl transferase 2) have been found to be associated with multiple chemical sensitivities (94). These may be relevant to CFS because of its high comorbidities with these two disorders.

All these proteins touch on the pathogenesis mechanism described in this paper, which is what would be expected if this Hypothesis is valid.

With regard to the stressors found to precede onset of CFS, they are known to raise cortisol secretion (prior to onset and early in the course of the illness), to raise epinephrine secretion and to place demands on glutathione, leading to oxidative stress (1).

According to this Hypothesis, when reduced glutathione is sufficiently depleted and the oxidative stress therefore becomes sufficiently severe in a person having the appropriate genetic predisposition, a block is established at methionine synthase in the methylation cycle (95,2,3). Because the methylation cycle is located upstream of cysteine and glutathione in the sulfur metabolism, these are further depleted, and a vicious circle is formed.
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)

Note that infectious pathogens are included among the possible biological stressors that can contribute to the onset of CFS. In particular, Borrelia burgdorferi, the bacterium responsible for Lyme disease, has been found to deplete glutathione in its host (96). This may explain the very similar pathophysiologies of chronic Lyme disease and CFS. This may also explain the epidemic clusters of CFS, which seem to have been produced by a virulent infectious pathogen (or pathogens). Perhaps the genetic factors are less important in producing the onset if a very virulent pathogen is present.

Epidemiology: According to the GD-MCB Hypothesis, the prevalence of CFS is determined by the frequency in the population of the combined presence of certain genetic polymorphisms (yet to be completely identified) and of the above described stressors occurring coincidentally in those having the polymorphisms. As noted earlier, the author has proposed that the higher prevalence in women is a result of increased bias toward oxidative stress, resulting from redox cycling in the metabolism of estradiol when certain polymorphisms in detoxication enzymes are present (76).

Suppression of parts of the immune response: Elevation of cortisol due to long-term stressors causes a suppression of the cell-mediated immune response and a shift to Th2 (97).
How does the GD-MCB hypothesis explain other aspects of chronic fatigue syndrome?
(continued)

Depletion of reduced glutathione likewise causes a shift to Th2 (98, 99).

The elevation of cortisol prior to onset and in the early course of the illness also (temporarily) suppresses inflammation (100).

The cytotoxicity of natural killer (NK) cells and CD8 T cells in CFS has been found to be low, and Maher et al. found this to be associated with a deficiency of perforin secretion (101). According to the GD-MCB Hypothesis, in CFS perforin secretion is inhibited by depletion of reduced glutathione because glutathione is needed to form the disulfide bonds in their proper configurations in secretory proteins (102). Depletion of glutathione therefore causes misfolding and recycle of perforin molecules, which have twenty cysteine residues and thus ten disulfide bonds (103). This misfolding mechanism would affect other secretory proteins in CFS that are synthesized in cells having glutathione depletion as well, which may account for the observation of misfolded proteins in the spinal fluid of CFS patients by Baraniuk et al. (104).

Proliferation of T lymphocytes is inhibited by the block in the folate cycle, which inhibits production of new RNA and DNA (105).
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)


Viral and intracellular bacterial reactivation: According to the GD-MCB Hypothesis, depletion of reduced glutathione is the trigger for the reactivation of latent viral and intracellular bacteria in CFS. The infections found initially in a case of CFS are usually due to those pathogens that are capable of residing in the body in the latent state, suggesting that these infections arise by reactivation (106). In general, intracellular glutathione depletion is associated with the activation of several types of viruses (1, 107-111) as well as Chlamydia (112), and it may account for reactivation of other latent intracellular bacteria as well. In herpes simplex type 1 viral infection, raising the glutathione concentration inhibits viral replication by blocking the formation of disulfide bonds in glycoprotein B (111). Since glycoprotein B appears to be present in all herpes virus types (113), it is likely that glutathione depletion is responsible for reactivation of Epstein-Barr virus, cytomegalovirus and HHV-6 in CFS.

The Coxsackie B3 virus genome is known to code for glutathione peroxidase, a selenium-containing enzyme (114). Taylor has suggested (115) that such viruses suppress the immune system of the host by depleting its selenium, thus inhibiting the hosts use of glutathione peroxidase. Since glutathione peroxidase makes use of
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)

glutathione, depletion of reduced glutathione itself would therefore assist this virus in its mechanism of infection.

Populations more deficient in selenium would be expected to be more vulnerable to Coxsackie B3 infection. It is interesting to note that nearly all the studies of Coxsackie virus in CFS have come from the UK. The population there has become more deficient in selenium since the 1970s, when major sources of grain in the diet were changed to areas with selenium-deficient soils (116).

Immune activation: This occurs when the immune system detects the reactivation of pathogens (117).

Activation of 2-5A, RNase-L pathway (118): This pathway is activated by interferon and double stranded RNA as part of the cellular response to viral reactivation. According to the GD-MCB Hypothesis, RNase-L remains activated in CFS because of the suppression of the cell-mediated immune response and the consequent failure to defeat the viral infection (See Suppression of parts of the immune response, above.)

Mitochondrial dysfunction and the onset of physical fatigue: As hypothesized by Bounous and Molson (119), competition between the oxidative skeletal muscle cells and
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome? (continued)

the immune system for the decreased supply of glutathione and cysteine causes depletion of reduced glutathione in the skeletal muscles. According to the GD-MCB Hypothesis, this inhibits the glutathione peroxidase reaction and allows hydrogen peroxide to build up. This in turn probably exerts product inhibition on the superoxide dismutase reaction, which allows superoxide, produced as part of normal oxidative metabolism, to rise in the mitochondria of the oxidative skeletal muscle cells. Superoxide reacts with nitric oxide to produce peroxynitrite, as Pall (120) has pointed out. Superoxide also interacts with aconitase in the Krebs cycle to inhibit it (121), and peroxynitrite can cause partial blockades in the Krebs cycle and also the respiratory chain (120, 122). These reactions lower the rate of production of ATP, and this constitutes mitochondrial dysfunction. Since ATP is needed to power muscle contraction, lack of it produces physical fatigue.

RNase-L cleavage, leading to formation of the low molecular weight version (123): Depletion of reduced glutathione removes inhibition of the activity of calpain (124), which is located in the cytosol with RNase-L, and calpain cleaves RNase-L (125). (Elastase, the other enzyme found by Englebienne et al. (125) to be able to cleave RNase-L in the laboratory, is confined to granules and vesicles inside living cells (126), and thus is not in contact with RNase-L.)
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome? (continued)


Failure to defeat viral and intracellular bacterial infections and continuing immune activation: According to the GD-MCB Hypothesis, these occur because of depletion of reduced glutathione (127) and also because the folate metabolism block prevents production of new DNA and RNA for proliferation of T lymphocytes (105).

Depletion of magnesium: There is a long history showing depletion of magnesium in CFS and benefits of supplementation, both orally and by injection (See review in Ref. 39). Magnesium depletion may be responsible for a variety of symptoms that are found in CFS (128), including mitochondrial dysfunction, muscle twitching, muscle pain, sleep problems and cardiac arrhythmia. In connection with sleep problems, Durlach et al. have found that magnesium depletion is associated with abnormalities in the level of melatonin and dysregulation of biorhythms (129). Manuel y Keenoy et al. (54) found that the subset of CFS patients that was resistant to repletion of magnesium in their clinical study also showed glutathione depletion. It has also been found that glutathione depletion causes magnesium depletion in red blood cells (130). According to the GD-MCB Hypothesis, the depletion of intracellular magnesium in CFS is another result of depletion of reduced glutathione.

Buildup of toxins: Glutathione depletion allows toxins, including heavy metals, to build up, because there is not
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome? (continued)


enough glutathione to conjugate these toxins as rapidly as they enter the body. Mercury is of particular concern, because the population in general has considerable exposure to it from dental amalgams, fish consumption, and environmental sources such as nearby coal-fired power plants. There is considerable clinical experience of mercury buildup in CFS patients (1). Immune testing has also shown evidence that the immune system has responded to elevated mercury in CFS patients (131-133).

Solidification of the vicious circle: After the vicious circle has developed involving the methylation cycle block and the depletion of glutathione, another factor must come into play to lock in this situation chronically. It seems likely that buildup of toxins is the factor responsible for this, by blocking the formation of methylcobalamin and thus the activity of methionine synthase. It has been shown that one of the important roles of glutathione normally is to protect the very much smaller (by six orders of magnitude) concentrations of cobalamins from reaction with toxins by forming glutathionylcobalamin (134). Without this protection, cobalamins are vulnerable to reaction with a variety of toxins. An example is mercury. It has been found that very small concentrations of mercury are required to block the methionine synthase reaction (135). Because of this additional factor, attempts simply to correct the glutathione depletion and the oxidative stress after the
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome? (continued)

cobalamins have reacted with toxins in most cases will not restore normal function of the methylation cycle (1).

Neurotransmitter dysfunction: The production of melatonin from serotonin as well as the metabolism of the catecholamines require methylation, as noted earlier, and according to the GD-MCB Hypothesis, they are inhibited because of the decreased methylation capacity. Also, genetic polymorphisms involving enzymes in the neurotransmitter system have been found to be more frequent in at least some subsets of CFS patients, as noted earlier. These factors cause dysfunction of the neurotransmitters.

Further development of mitochondrial dysfunction: As the course of the illness progresses, it is likely that other factors that result from glutathione depletion and the methylation cycle block come into play and further suppress the operation of the mitochondria. These include the buildup of toxins and infections, depletion of magnesium, and damage to the phospholipid membranes of the mitochondria by oxidizing free radicals (136). Because the essential fatty acids in these membranes are polyunsaturated, they are the most vulnerable to oxidation (137), and they become depleted, at least in some CFS patients (See review in Ref. 39).


How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome? (continued)


HPA axis blunting (138): According to this Hypothesis, glutathione depletion in the pituitary gland inhibits production of proopiomelanocortin (POMC) (which has
two disulfide bonds in its N-terminal fragment (139)), and hence secretion of ACTH (which is part of POMC), by the same mechanism as inhibition of perforin synthesis (102) (See Suppression of parts of the immune response, above.). This results in the lowering of cortisol secretion by the adrenal glands, which is a late finding in the course of the illness (140). As noted earlier, genetic polymorphisms in POMC may also be involved in a subset of CFS patients (91).

Diabetes insipidus (excessive urination, thirst, decrease in blood volume): According to this Hypothesis, glutathione depletion inhibits production of arginine vasopressin (141), which has one disulfide bond (142), by the same biochemical mechanism by which it inhibits perforin and ACTH synthesis (102). It is likely that the secretion of oxytocin, which also has one disulfide bond and is also synthesized in the hypothalamus, is also inhibited. Measurements of oxytocin in CFS have not been reported, but there is evidence that it is low in some fibromyalgia patients (143), which may be relevant because of the high comorbidity of CFS and fibromyalgia. A clinician has reported benefit from oxytocin injections in fibromyalgia patients (144).
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome? (continued)


Low cardiac output (145): According to this Hypothesis, this occurs because depletion of reduced glutathione in the heart muscle cells lowers the rate of production of ATP, as in the skeletal muscle cells. This produces diastolic dysfunction as observed by Cheney (146, 147). Both low blood volume (see Diabetes insipidus, above), which produces low venous return, and diastolic dysfunction, which decreases filling of the left ventricle, produce low cardiac output. In addition, in some cases, as observed by Lerner et al., viral infections produce cardiomyopathy (148). According to the GD-MCB Hypothesis, this is a result of depletion of reduced glutathione and suppression of cell-mediated immunity. This is another factor that can decrease cardiac output in CFS.

Orthostatic hypotension and orthostatic tachycardia (149): According to this Hypothesis, these occur because of low blood volume, low cardiac output and HPA axis blunting (See Diabetes insipidus, Low cardiac output, and HPA axis blunting, above.).

Loss of temperature regulation: As pointed out by Cheney (146), this occurs because of low cardiac output (see Low cardiac output, above), which causes the autonomic nervous system to decrease blood flow to the skin. This removes the ability to regulate the rate of heat loss from the skin.
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)


Hashimotos thyroiditis (150) and elevated incidence of thyroid cancer (151): According to this Hypothesis, Hashimotos thyroiditis occurs in CFS because depletion of reduced glutathione in the thyroid gland allows damage to thyroglobulin by hydrogen peroxide, as proposed by Duthoit et al. (152). In addition, hydrogen peroxide damage to DNA in the thyroid gland may be responsible for the elevated incidence of cancer there. Hydrogen peroxide is produced normally by the thyroid to oxidize iodide in the process of making thyroid hormones (153).

Increasing variety of infections (154) and inflammation (155): According to this Hypothesis, viral, intracellular bacterial and fungal infections accumulate over time because the cell-mediated immune response is dysfunctional (See Suppression of parts of the immune response, above.). Inflammation becomes more severe because of the decreased secretion of cortisol later in the course of the illness (See HPA axis blunting, above), and because of the rise in histamine as a result of lack of sufficient methylation capacity to deactivate it (156).

Slow gastric emptying (157) and gastroesophageal reflux: According to this Hypothesis, in CFS these result from mitochondrial dysfunction in the parietal cells of the
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)


stomach, due to depletion of reduced glutathione, which results in low production of stomach acid. (Anecdotally, many CFS patients have reported absence of eructation after ingestion of sodium bicarbonate solution on an empty stomach, suggesting low stomach acid status.) A slower rate of gastric emptying was found to be associated with higher pH, i.e. lower acid status (158).

Gut problems: According to this Hypothesis, several of the above factors converge to produce problems in the gut in CFS, often referred to as irritable bowel syndrome (IBS). These factors include glutathione depletion, low cardiac output, immune suppression, low stomach acid production, neurotransmitter dysfunction (note that serotonin plays a major role in gut motility), and increasing variety of infections and inflammation.

The degree of abnormality of a lactulose breath test (indicating small intestinal bacterial overgrowth) in fibromyalgia patients was found by Pimentel et al. to be greater than in IBS patients without fibromyalgia (159). In addition, they found that the abnormality was correlated with somatic pain (159). (This may be relevant because of the high comorbidity of CFS with fibromyalgia.)

How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)

Brain-related problems: According to this Hypothesis, several of the above factors also converge to produce problems in the brain. These include glutathione (and cysteine) depletion, low cardiac output, failure to defeat infections and continued immune activation, neurotransmitter dysfunction, decreased methylation
capacity to maintain myelin, and increasing variety of infections and inflammation.

Relapsing (Crashing) (160): Many CFS patients have chronically low glutathione levels. According to this Hypothesis, when the level of stressors is temporarily increased, the levels of reduced glutathione become more severely depleted, and this produces the so-called crashing phenomenon. After a period of rest, reduced glutathione levels are increased to the chronically low levels that existed prior to the increased stressors.

Alcohol intolerance (161): According to this Hypothesis, because of mitochondrial dysfunction, the skeletal muscles of CFS patients depend more than normal on glycolysis for ATP production. Increased use of glycolysis requires increased use of gluconeogenesis by the liver to convert lactate and pyruvate back to glucose (Cori cycle). In CFS, this is hampered by low cortisol levels. The metabolism of ethanol by the liver further inhibits gluconeogenesis,
How does the GD-MCB Hypothesis explain other aspects of chronic fatigue syndrome?
(continued)

producing hypoglycemia and lactic acidosis. This accounts for the alcohol intolerance reported by many CFS patients.

Weight gain: According to this Hypothesis, the weight gain often seen in CFS results from the inability to metabolize
carbohydrates and fats at normal rates, because of partial
blockades in the Krebs cycle produced by depletion of reduced glutathione. Excess carbohydrates are cycled back to glucose by gluconeogenesis, and ultimately are converted to stored fat.

Low serum amino acid levels (19): According to this Hypothesis, these result from the burning of amino acids as fuel at higher rates than normal. Amino acids are able to enter the Krebs cycle by anaplerosis, downstream of the partial blockades, so they can be used as fuel in place of carbohydrates and fats.

The pathogenesis of CFS becomes increasingly complex as it proceeds, because of the interactions and feedback loops that develop. For this reason, determining the cause-effect relationships for all the aspects of the resulting pathophysiology is a problem that is exceedingly difficult. Nevertheless, understanding the etiology and early pathogenesis provides a basis for developing a more effective treatment approach.
CONCLUSIONS


There is abundant and compelling evidence that the glutathione depletionmethylation cycle block mechanism is an important part of the pathogenesis for at least a substantial subset of chronic fatigue syndrome patients.

A pathogenesis hypothesis based on this mechanism is capable of explaining and unifying many of the published observations regarding chronic fatigue syndrome, and it provides a basis for developing a more effective treatment approach.














KEY TO DIAGRAM


The diagram shows the methylation cycle at the top right, the folate cycle at the top left, and the transsulfuration pathway at the bottom right.

The enzymes that catalyze the reactions are shown in boxes:

BHMT Betaine homocysteine methyltransferase
CBS Cystathionine beta synthase
CDO Cysteine dioxygenase
CGL Cystathionine gamma lyase
GCL Glutamate cysteine ligase
GS Glutathione synthase
MAT Methionine adenosyltransferase
MS Methionine synthase
MSR Methionine synthase reductase
MTase Methyltransferase (a class of enzymes)
MTHFR Methylene tetrahydrofolate reductase
SHT Serine hydroxymethyltransferase
TS Thymidylate synthase

Most of the metabolites are spelled out. The ones that are abbreviated are as follows:

DMG Dimethylglycine
SAH S-Adenosylhomocysteine
SAM S-Adenosylmethionine
THF Tetrahydrofolate
TMG Trimethylglycine (betaine)

The cofactor and coenzyme are as follows:

P5P Pyridoxal phosphate, the active form of
Vitamin B6
B12 Methylcobalamin, one of the active forms of
Vitamin B12
 

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117. Janeway, C.A., Jr., Travers, P., Walport, M. and Shlomchik, M.J., T Cell-Mediated Immunity, chapter 8 in Immunobiology, 6th edition, Garland Science, New York (2005), pp. 319-365.

118. Bastide, L., Demettre, E., Martinand-Mari, C., and Lebleu, B., Interferon and the 2-5A/Pathway, chapter 1 in Englebienne, P., and De Meirleir, K., Chronic fatigue syndrome--a biological approach, CRC Press, Boca Raton, FL, U.S.A. (2002), pp. 1-15.

119. Bounous, G., and Molson, J., Competition for glutathione precursors between the immune system and the skeletal muscle: pathogenesis of chronic fatigue syndrome, Med. Hypotheses (1999); 53 (4): 347-349.

120. Pall, M., Elevated, sustained peroxynitrite levels as the cause of chronic fatigue syndrome, Med. Hypotheses (2000); 54 (1): 115-125.

121. Fridovich, I., Superoxide radical and superoxide dismutases, Annu. Rev. Biochem. (1995); 64: 97-112.

122. Radi, R., Cassina, A., Hodara, R., Quijano, C., and Castro, L., Peroxynitrite interactions and formation in mitochondria, Free Radic. Biol. Med. (2002); 33 (11); 1451-1464.

123. Suhadolnik, R.J., Peterson, D.L., OBrien, K., Cheney, P.R., Herst, C.V.T., Reichenbach, N.L., et al., Biochemical evidence for a novel low molecular weight 2-5A-dependent RNase L in chronic fatigue syndrome, J. Interferon Cytokine Research (1997); 17: 377-385.

124. Englebienne, P., Herst, C.V., Roelens, S., DHaese, A., El Bakkouri, K., De Smet, K., Fremont, M., Bastide, L., Demettre, E. and Lebleu, B., Ribonuclease L: overview of a multifaceted protein, chapter 2 in Englebienne, P., and De Meirleir, K., Chronic fatigue syndrome--a biological approach, CRC Press, Boca Raton, FL, U.S.A. (2002), pp. 17-54.

125. Rackoff, J., Yang, Q., and DePetrillo, P.B., Inhibition of rat PC12 cell calpain activity by glutathione, oxidized glutathione and nitric oxide, Neurosci. Lett. (2001); 311 (2): 129-132.

126. Baggiolini, M., Schnyder, J., Bretz, U., Dewald, B., and Ruch, W., Cellular mechanisms of proteinase release from inflammatory cells and the degradation of extracellular proteins, Ciba Found. Symp. (1979); 75: 105-121.

127. Droge, W., and Breitkreutz, R., Glutathione and immune function, Proc. Nutr. Soc. (2000); 59: 595-600.

128. Seelig, M.S., Review and hypothesis: might patients with the chronic fatigue syndrome have latent tetany of magnesium deficiency?, J. Chronic Fatigue Syndrome (1998); 4 (2): 77-108.

129. Durlach, J., Pages, N., Bac, P., Bara, M., Guiet-Bara, A., and Agrapart, C., Chronopathological forms of magnesium depletion with hypofunction or with hyperfunction of the biological clock, Magnes. Res. (2002); 15 (3-4): 263-268.

130. Barbagallo, M., Dominguez,L.J., Taglimonte, M.R., Resnick, L.M. and Paolisso, G., Effects of glutathione on red blood cell intracellular magnesium: relation to glucose metabolism, Hypertension (1999); 34 (1): 76-82.

131. Stejskal, V.D., Danersund, A., Lindvall, A., Hudecek, R., Nordman, V., Yaqob, A., Mayer, W., Bieger, W., and Lindh, U., Metal-specific lymphocytes: biomarkers for sensitivity in man, Neuroendocrinol. Lett. (1999); 20 (5): 289-298.

132. Sterzl, I., Prochazkova, J., Hrda, P., Bartova, J., Matucha, P., and Skejskal, V.D., Mercury and nickel allergy: risk factors in fatigue and autoimmunity, Neuroendocrinol. Lett. (1999); 20 (3-4): 221-228.

133. Marcusson, J.A., The frequency of mercury intolerance in patients with chronic fatigue syndrome and healthy controls, Contact Dermatitis (1999); 41 (1): 60-61.

134. Watson, W.P., Munter, T., and Golding, B.T., A new role for glutathione: protection of vitamin B12 from depletion by xenobiotics, Chem. Res. Toxicol. (2004); 17: 1562-1567.

135. Waly, M., Oltenau, H., Banerjee, R., Choi, S-W., Mason, J.B., Parker, B.S., Sukumar, S., Shim, S., Sharma, A., Benzecry, J.M., Power-Charnitsky, V-A., and Deth, R.C., Activation of methionine synthase by insulin-like growth factor-1 and dopamine: a target for neurodevelopmental toxins and thimerosol, Molec. Psychiat. (2004); 9: 358-370.

136. Personal communication with Dr. Sarah Myhill of Wales, UK (2006), based on laboratory analysis of Dr. John McLaren Howard of Biolab Medical Unit in London, UK. To be published.

137. Levine, S.A. and Kidd, P.M., Antioxidant adaptation: its role in free radical pathology, Allergy Research Group, San Leandro, CA, U.S.A. (1986).

138. Demitrack, M.A., Dale, J.K., Straus, S.E., Laue, L., Listwak, S.J., and Kruesi, M.J., Evidence for impaired activation of the hypothalamic-pituitary-adrenal axis in patients with chronic fatigue syndrome, J. Clin. Endocrinol. Metab. (1991): 73 (6): 1224-1234.

139. Bennett, H.P., Seidah, N.G., Benjannet, S., Solomon, S., and Chretien, M., Reinvestigation of the disulfide bridge arrangement in human pro-opiomelanocortin N-terminal segment (hNT 1-76), Int. J. Pept. Protein Res. (1986); 27 (3): 306-313.

140. Demitrack, M.A., Neuroendocrine correlates of chronic fatigue syndrome: a brief review, J. Psychiatric Research (1997); 31 (1): 69-82.

141. Bakheit, A.M., Behan, P.O., Watson, W.S., and Morton, J.J., Abnormal arginine-vasopressin secretion and water metabolism in patients with postviral fatigue syndrome, Acta Neurol. Scand. (1993); 87 (3): 234-238.

142. Greenspan, F.S. and Gardner, D.G., Basic & Clinical Endocrinology, seventh edition, Lange Medical Books/McGraw-Hill, New York (2004), p. 116.

143. Anderberg, U.M., and Uvnas-Moberg, K., Plasma oxytocin levels in female fibromyalgia syndrome patients, Z. Rheumatol. (2000); 59 (6): 373-379.

144. Flechas, J., Oxytocin in the treatment of fibromyalgia, lecture (2004), available from
http://www.brodabarnes.org/audio_visual.htm, order number A126.

145. Peckerman, A., LaManca, J.J., Dahl, K.A., Chemitiganti, R., Qureishi, B., and Natelson, B.H., Abnormal impedance cardiography predicts symptom severity in chronic fatigue syndrome, Am. J. Med. Sci. (2003); 326 (2): 55-60.

146. Cheney, P.R., CFS & Diastolic Cardiomyopathy, lecture (June 18, 2005), video tape obtained from Dallas-Fort Worth CFIDS Support Group, 513 Janann St., Euless, TX 76039, U.S.A.

147. Cheney, P.R., Chronic fatigue syndrome: the heart of the matter, lecture (September 2006), DVDs obtained from Dallas-Fort Worth CFIDS Support Group, 513 Janann St., Euless, TX 76039, U.S.A.

148. Lerner, A.M., Dworkin, H.J., Sayyed, T., Chang, C.H., Fitzgerald, J.T., Begaj, S., Deeter, R.G., Goldstein, J., Gottipolu, P., and ONeill, W., Prevalence of abnormal cardiac wall motion in the cardiomyopathy associated with incomplete multiplication of Epstein-Barr Virus and/or cytomegalovirus in patients with chronic fatigue syndrome, In Vivo (2004); 18 (4): 417-424.

149. Stewart, J.M., Orthostatic intolerance, chapter 13, Handbook of Chronic Fatigue Syndrome, L. A. Jason et al., eds, John Wiley and Sons, Hoboken, NJ, U.S.A. (2003), pp. 245-280.

150. Wikland, B., Lowhagen, T., and Sandberg, P.O.. Fine-needle aspiration cytology of the thyroid in chronic fatigue, Lancet (2001); 357 (9260): 956-957.

151. Hyde, B., paper at this Conference. (The present authors review of Dr. Hydes 2004 preconference talk, in which he also discussed this topic, can be found at either of the following websites: http://phoenix-cfs.org/AACFS04Hyde.htm or
http://www.pahealthsystems.com/archive308-2004-11-192561.html

152. Duthoit, C., Estienne, V., Giraud, A., Durand-Gorde, J.M., Rasmussen, A.K., Feldt-Rasmussen, U., Carayon, P., and Ruf, J., Hydrogen peroxide-induced production of 40 kDa immunoreactive thyroglobulin fragment in human thyroid cells: the onset of thyroid autoimmunity?, Biochem. J. (2001); 360 (Pt 3): 557-562.

153. Ekholm, R. and Bjorkman, U., Glutathione peroxidase degrades intracellular hydrogen peroxide and thereby inhibits intracellular protein iodination in thyroid epithelium, Endocrinology (1997); 138: 2871-2878.

154. Nicolson, G.L., Gan, R., and Haier, J., Multiple co-infections (Mycoplasma, Chlamydia, human herpes virus-6) in blood of chronic fatigue syndrome patients: association with signs and symptoms, APMIS (2003); 111 (5): 557-566.

155. Buchwald, D., Werner, M.H., Pearlman, T., and Kith, P., Markers of inflammation and immune activation in chronic fatigue and chronic fatigue syndrome, J. Rheumatol. (1997), 24 (2): 372-376.

156. Bhagavan, N.V., Medical Biochemistry, fourth edition, Harcourt Academic Press, San Diego, CA, U.S.A. (2002) p. 352.

157. Burnet, R.B., and Chatterton, B.E., Gastric emptying is slow in chronic fatigue syndrome, BMC Gastroenterology (2004); 4: 32.

158. Emerenziani, S., and Sifrim, D., Gastroesophageal reflux and gastric emptying, revisited, Curr. Gastroenterol. Rep. (2005); 7 (3): 190-195.

159. Pimentel, M., Wallace, D., Hallegua, D., Chow, E., Kong, Y., Park, S., and Lin, H.C., A link between irritable bowel syndrome and fibromyalgia may be related to findings on lactulose breath testing, Ann. Rheum. Dis. (2004); 63 (4): 450-452.

160. Nisenbaum, R., Jones, J.F., Unger, E.R., Reyes, M., and Reeves, W.C., A population-based study of the clinical course of chronic fatigue syndrome, Health Qual. Life Outcomes (2003); 1 (1): 49.

161. Woolley, J., Allen, R., and Wessely, S., Alcohol use in chronic fatigue syndrome, J. Psychosom. Res. (2004): 56 (2): 203-206.
 

richvank

Senior Member
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Documents by Rich Van Konynenburg Part 4

4.
WHY IS THE PREVALENCE
OF CHRONIC FATIGUE SYNDROME
HIGHER IN WOMEN THAN IN MEN?

by

Richard A Van Konynenburg, Ph.D.
(Independent Researcher and Consultant)

richvank@aol.com


8th International IACFS Conference on
Chronic Fatigue Syndrome, Fibromyalgia
and other Related Illnesses

Ft. Lauderdale, Florida, U.S.A.
January 10-14, 2007


Epidemiological studies have found that the prevalence of CFS is significantly higher in women than in men.


Jason et al. (1) found a ratio of 1.8 (women to men) in a community-based study in Chicago, IL, USA, that included over 28,000 adults.

Reyes et al. (2) found a ratio of 4.5 (women to men) in a study in Wichita, KN, USA, that included nearly 24,000 households.

Other studies in San Francisco, CA, USA (3), the U.K. (4), Australia (5), Sweden (6), Iceland (7) and the Netherlands (8) have also found significantly higher prevalence of CFS or CFS-like illness in women.


Children have been found to have a lower rate of incidence of CFS than adults, and there does not appear to be an effect of gender on the incidence of CFS in childhood:

Carter and Marshall (1995) (9)

Jordan et al. (2000) (10)

Chalder et al. (2003) (11)

Means et al. (2004) (12)

Jones et al. (2004) (13)

Farmer et al. (2004) (14)

ter Wolbeek et al. (2006) (15)



This suggests that the transition to a higher relative rate of incidence of CFS in females occurs during adolescence, and thus that it may be related to increases in production of the female sex hormones, which occur at that time.



Hypothesis


1. Many people with CFS have polymorphisms in the genes that code for the detox enzymes that metabolize the estrogens, and in particular the dominant estrogen, estradiol.


2. These polymorphisms can be expected to occur equally in males and females, since these genes are autosomal (i.e. they are located on non-sex chromosomes). However, these polymorphisms would be particularly important in women who are in their potentially reproductive years, because of the higher production of estradiol in these women.


3. One result of the presence of these polymorphisms would be to increase the levels of semiquinones and quinones (16).


4. Semiquinones and quinones react back and forth between each other in a process that generates superoxide ions and is called redox cycling (17).




Hypothesis (continued)


5. This redox cycling would produce an additional contribution to oxidative stress in these women that does not occur in men. Mens bodies produce much lower amounts of estradiol (by the action of aromatase on testosterone), and the metabolism of the remainder of the testosterone occurs by different pathways that do not involve redox cycling (18).


6. According to the Glutathione DepletionMethylation Cycle Block Hypothesis for the pathogenesis of CFS (19), oxidative stress depletes glutathione, which leads to the onset of CFS.


7. Therefore, women in their potentially reproductive years who have the relevant polymorphisms would have an additional factor biasing them toward onset of CFS that men do not have, and this would produce a higher prevalence of CFS in women than in men.


(Note that this redox cycling mechanism is well established and has been under study for several years because of its possible involvement in carcinogenesis (16, 17).


Rates of Production of Estradiol in
Males and Females


PREPUBERTAL CHILDREN (20, 21):

BOYS: 0.04 micrograms per day

GIRLS: 0.3 micrograms per day



MEN: 50 micrograms per day (22)



WOMEN (by menstrual cycle stage) (22):

Early follicular 36 micrograms per day
Preovulatory 380 micrograms per day
Midluteal 250 micrograms per day



Normal Metabolism of Estradiol by Detox Enzymes (23,24)

(See diagram)

The metabolism of estradiol (and of the estrogens in general) is complex, including a large number of alternative pathways and metabolites.


Most of the metabolism of estradiol occurs in the liver, while smaller amounts occur in other organs, including breast, uterus, brain, kidneys and ovaries.


Some estradiol is converted to estrone, and some is acted upon by various CYP450 enzymes to form multiple hydroxylated metabolites. Estradiol itself, estrone and these hydroxylated metabolites can be conjugated by other detox enzymes to form sulfates, glucuronides, or fatty acid esters. The various sulfate and glucuronide conjugates are the main metabolites that are excreted in urine and stools. Only the major pathways of estradiol metabolism are discussed in detail in the following.


The main hydroxylation reactions in the liver involve the CYP450 enzymes CYP3A and CYP1A2, and their chief product is 2-hydroxyestradiol, which is a catechol estradiol.

Normal Metabolism of Estradiol by Detox Enzymes (continued) (23,24)

(See diagram)


A smaller fraction of the total estradiol is metabolized by the enzyme CYP1B1, located in organs other than the liver. This reaction primarily produces 4-hydroxyestradiol, another catechol estradiol.


Most of the catechol estradiols are O-methylated by the enzyme catechol-O-methyltransferase (COMT) to form 2- and 4-methoxyestradiols, which are excreted.


Some of the catechol estradiol molecules escape the COMT reaction and instead are further oxidized by CYP1B1 to form semiquinones, which in turn are oxidized to form quinones. Normally, these are conjugated to glutathione by the glutathione transferase (GST) superfamily of enzymes and are excreted.



What would happen to estradiol metabolism if there were polymorphisms in the detox enzymes?

(See diagram)


CYP3A4 AND CYP1A2: Known polymorphisms that lower the activity of these enzymes would decrease the fraction of estradiol that is metabolized by them in the liver. This would have the effect of increasing the fraction of estradiol that is metabolized in other organs by CYP1B1.

CYP1B1: Known polymorphisms that raise its activity would cause a greater rate of production of 4-hydroxyestradiol, and would also cause more of this to be oxidized to form semiquinones and quinones (16).

COMT: Known polymorphisms that lower its activity would decrease the fraction of 4-hydroxyestradiol that is methylated, leaving more to be oxidized to semiquinones and quinones.

GST enzymes: Known polymorphisms that lower the activity of members of this superfamily of enzymes would decrease the rate of removal of semiquinones and quinones, leaving more of them to carry on redox cycling and to contribute to oxidative stress (25).


Have any of the detox enzymes that metabolize estradiol been found to have these polymorphisms at higher frequencies in people with CFS?

Of these enzymes, so far the only one that has been reported to have been studied in CFS is COMT.

Goertzel et al. (26) found that they could distinguish CFS cases from controls with an accuracy of 75% by using combinations of polymorphisms of only five genes. They reported that of the nine genes containing a total of 28 polymorphisms that they considered, the gene for COMT was among the three most important genes for distinguishing CFS cases from controls. They considered six COMT polymorphisms in their study. (This result is remarkable in view of the facts that the entire human genome contains about 25,000 genes and several million polymorphisms, and this demonstrates the importance of elevated frequencies of COMT polymorphisms in CFS.)

Two studies (27,28) have found the COMT Val 158 Met polymorphism to have significantly higher frequencies in people with fibromyalgia than in controls. (This may be relevant because of the high comorbidity between CFS and fibromyalgia.)



What about polymorphisms in the CYP and GST enzymes in CFS? Have they been observed at elevated frequencies?

Although no studies have yet been published about the frequencies of polymorphisms in the CYP enzymes or the glutathione transferases in CFS relative to controls, the author has received anecdotal reports from several people with CFS who have had these polymorphisms characterized, and trends in the data suggest high frequencies for these polymorphisms in CFS, also.


Conclusions

This hypothesis is consistent with known biochemistry, and in combination with the Glutathione DepletionMethylation Cycle Block Hypothesis for the pathogenesis of chronic fatigue syndrome (19), it provides a plausible explanation for the observed higher prevalence of CFS in women, a feature that has heretofore not been explained.

This hypothesis is also consistent with available evidence concerning the elevated frequencies of polymorphisms in catechol-O-methyltransferase (COMT) in CFS.

Controlled study in people with CFS of the frequencies of polymorphisms in the other enzymes involved in the metabolism of estradiol appears to be warranted. Such study would test this hypothesis. It would also shed light on the pathogenesis of CFS, and perhaps on the pathogeneses of other disorders important in womens health.

References

1. Jason, L.A., Richman, J.A., Rademaker, A.W. et al., A community-based study of chronic fatigue syndrome, Arch. Intern. Med. 159 (18), 2129-2137 (1999).

2. Reyes, M., Nisenbaum, R., Hoaglin, D. et al., Prevalence and incidence of chronic fatigue syndrome in Wichita, Kansas, Arch. Intern. Med. 163, 1530-6 (2003).

3. Steele, L., Dobbins, J.G., Fukuda, K. et al., The epidemiology of chronic fatigue syndrome in San Francisco, Am. J. Med. 105 (3A), 83S-90S (1998).

4. Gallagher, A.M., Thomas, J.M., Hamilton, W.T. and White, P.D., Incidence of fatigue symptoms and diagnoses presenting in UK family care from 1990 to 2001, J. Royal. Soc. Med. 97, 571-5 (2004).

5. Lloyd, A.R., Hickie, I., Boughton, C.R. et al., Prevalence of chronic fatigue syndrome in an Australian population, Med. J. Australia 153, 522-8 (1990).

6. Evengard, B., Jacks, A., Pedersen, N. and Sullivan, P.F., The epidemiology of chronic fatigue in the Swedish Twin Registry, Psych. Med. 35, 1317-26 (2005).

7. Lindal, E., Stefansson, J.G., and Bergmann, S., The prevalence of chronic fatigue syndrome in Icelanda national comparison by gender drawing on four different criteria, Nordic J. of Psychiatry 56 (4), 273-7 (2002).

8. Bazelmans, E., Vercoulen, J.H., Galama, J.M. et al., Prevalence of chronic fatigue syndrome and primary fibromyalgia syndrome in the Netherlands, Ned. Tijdschr. Geneeskd. 141 (31), 1520-3 (1997).

9. Carter, B.D. and Marshall, G.S., New developments: diagnosis and management of chronic fatigue in children and adolescents, Current Problems in Pediatrics 25, 281-93 (1995).

10. Jordan, K.M., Ayers, P.M., Jahn, S.C. et al., Prevalence of fatigue syndrome-like illness in children and adolescents, J. Chronic Fatigue Syndrome 6 (1), 3-21 (2000).

11. Chalder, T., Goodman, R., Wessely, S. et al., Epidemiology of chronic fatigue syndrome and self reported myalgic encephalomyelitis in 5-15 year olds; cross sectional study, BMJ 327, 654-5 (2003).

12. Mears, C.J., Taylor, R.R., Jordan, K.M. and Binns, H.J., Sociodemographic and symptom correlates of fatigue in an adolescent primary care sample, J. Adolesc. Health 35, 528.e21-528.e26 (2004).

13. Jones, J.F., Nisenbaum, R., Solomon, L. et al., Chronic fatigue syndrome and other fatiguing illnesses in adolescents: a population-based study, J. Adolesc. Health 35 (1), 34-40 (2004).

14. Farmer, A., Fowler, T., Scourfield, J., and Thapar, A., Prevalence of chronic disabling fatigue in children and adolescents, Brit. J. Psychiat. 184, 477-81 (2004).

15. ter Wolbeek, M., van Doornen, L.J., Kavelaars, A., and Heijnen, C.J., Severe fatigue in adolescents: a common phenomenon?, Pediatrics 117 (6), e1078-86 (2006).

16. Sissung, T.M., Price, D.K., Sparreboom, A. and Figg, W.D., Pharmacogenetics and regulation of human cytochrome P450 1B1: implications in hormone-mediated tumor metabolism and a novel target for therapeutic intervention, Mol. Cancer. Res. 4 (3), 135-50 (2006).

17. Liehr, J.G. and Roy, D., Free radical generation by redox cycling of estrogens, Free Radical Biol. & Med. 8, 415-23 (1990).

18. Bhagavan, N.V., Medical Biochemistry, fourth edition, Harcourt/Academic Press, Burlington, MA (2002) pp. 785-6.

19. Van Konynenburg, R.A., Glutathione depletionmethylation cycle block hypothesis for the pathogenesis of chronic fatigue syndrome, poster paper, this Conference.
20. Klein, K.O., Baron, J., Colli, M.J. et al., Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay, J. Clin. Invest. 94, 2475-80 (1994).

21. Andersson, A.M. and Skakkebaek, N.E., Exposure to exogenous estrogens in food: possible impact on human development and health, Eur. J. Endocrin. 140, 477-85 (1999).

22. Yen, S.S.C., Jaffe, R.B. and Barbieri, R.L., Reproductive endocrinology, 4th ed. Saunders (1999), as cited in Ganong, W.F., Review of medical physiology, twenty-second edition, New York, Lange Medical Books/McGraw-Hill (2005), p. 441.

23. Tsuchiya, Y., Nakajima, M. and Yokoi, T., Cytochrome P450-mediated metabolism of estrogens and its regulation in human, Cancer Letts. 227, 115-24 (2005).

24. Raftogianis, R., Creveling, C., Weinshilboum, R., and Weisz, J., Chapter 6: Estrogen metabolism by conjugation, J. Nat. Cancer Inst. Monographs No. 27, 113-24 (2000).

25. Hachey, D.L, Dawling, S., Roodi, N. and Parl, F.F., Sequential action of phase I and II enzymes cytochrome P450 1B1 and glutathione S-transferase P1 in mammary estrogen metabolism, Cancer Res. 63, 8492-9 (2003).
 

richvank

Senior Member
Messages
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Documents by Rich Van Konynenburg Part 5

5.

January 25, 2007

Suggestions for Treatment of Chronic Fatigue Syndrome (CFS) based on the Glutathione DepletionMethylation Cycle Block Hypothesis for the Pathogenesis of CFS


Richard A. Van Konynenburg, Ph.D.

(Independent Researcher and Consultant)

richvank@aol.com


I presented the Glutathione DepletionMethylation Cycle Block Hypothesis for the pathogenesis of CFS in a poster paper at the 8th international conference of the International Association for Chronic Fatigue Syndrome in Ft. Lauderdale, Florida, on January 10-14, 2007. This poster paper is available on the internet at the following url: http://phoenix-cfs.org/GSH Methylation Van Konynenburg.htm
Since then I have received requests from some clinicians for a description of a treatment approach based on this hypothesis.

I am a researcher, not a clinician, and I am well aware that it is one thing to believe that one understands the pathogenesis of a disorder, but quite another to know how to treat patients who suffer from this disorder. Nevertheless, I will respond to these requests to the degree I am able. What I can say in this regard will be based on what I perceive are the most successful treatment approaches currently used in autism, which I believe shares the same basic pathogenetic mechanism with CFS, and also on limited experience in communicating by internet with the small number of CFS patients so far who have elected to try these approaches. Of course, I am counting on clinicians to apply their judgment to what I write here, based on their expertise and clinical experience, since responsibility for treatment falls to them.

I suspect that clinicians would like for me to supply a simple, straightforward approach that would be uniformly applicable to all CFS patients and thus readily useable in a typical busy practice in todays medical climate, in which it is practicable to devote only a relatively short time to each individual patient. Believe me, I understand this, and I would very much like to be able to give such a response.

Now comes the however. At this point it appears that it will actually be necessary in most cases to devote considerable time to each patient, and to tailor the treatment program to the individual patient. In my opinion, the reasons for this do not appear now to be lack of understanding of the pathogenesis, but to be inherent in the genetic individuality of the patients as well as in the variety of their concomitant medical issues and, for many, in their general state of debility. I now see this need for individual treatment and significant time investment in each patient as the most significant problem in the practicable delivery of treatment to these patients. Hopefully this will become clearer as I explain further, and hopefully also, this problem can be ameliorated to some degree in the future as more experience is gained.

If you have read my pathogenesis paper, you know that I now believe that the fundamental biochemical issue in at least a large subset of the CFS patients is that the methylation cycle is blocked. Therefore, I think that the main goal of treatment must be to remove this block and to get the methylation cycle back into normal operation. I believe that it is also true that glutathione depletion is present in these patients and is directly responsible for many of the features of CFS, as I described in my recent poster paper, but I have found in interacting with clinicians as well as with many patients on the CFS internet lists, that it is usually not possible to normalize the glutathione levels on a permanent basis by direct approaches of glutathione augmentation. Instead, it appears that the methylation cycle block must be corrected first, to break the vicious circle that is holding down the glutathione levels. In addition to this, some patients, because of particular genetic polymorphisms, cannot tolerate supplementation with glutathione or other substances intended to help them directly to build glutathione. One clinician estimated to me that this group amounts to about one-third of the patients.

Based on what is being done in autism by the Defeat Autism Now! (DAN!) researchers and clinicians and independently by Dr. Amy Yasko, N.D., Ph.D., I am going to suggest two treatment approaches for CFS. The first is a simplified approach which may be applicable to patients who have not been ill for an extended period, and who are not very debilitated. Use of this simplified approach would be based on the hope that the patient does not have certain genetic polymorphisms, which would not be known in this simplified approach. If the patient does in fact have these polymorphisms, the simplified approach will not be successful, and then you will have to move on to the more complex treatment. This simpler treatment approach is based partly on the treatment that was used by Dr. S. Jill James, Ph.D., et al. in the study that found the connection between the methylation cycle block and glutathione depletion in autism (This was Ref. 2 in my pathogenesis paper), but it makes use of supplements that are part of Dr. Amy Yaskos treatment program. The second treatment approach is much more involved and is based on Dr. Yaskos complete autism treatment. I currently believe that the second approach is the type of treatment that will be necessary also for most CFS patients, and certainly those of longer standing or greater debility, as well as those having certain genetic polymorphisms. However, I am including the simpler approach in an effort to match the practical demands of current medical practice, to the degree I understand them.

In the simplified treatment approach, potentially applicable to patients who have not been ill for an extended period, who are not very debilitated, and who will initially be assumed not to have certain genetic polymorphisms, one would proceed directly toward the goal of restarting the methylation cycle, together with some general nutritional support. If this treatment is tolerated and is efficacious in a particular case, I think it could actually be relatively straightforward. I think it should be borne in mind, though, that if the simplified approach is not effective for a particular patient, there is the risk that trying it could discourage the patient before she or he reaches the second option. So I think it would be proper and wise to discuss this issue with the patient up front, and to apply considerable clinical judgment as to whether the simplified approach should be tried on a particular patient.

The simplified approach would involve giving the following oral supplements daily, all of which are available from Dr. Yaskos supplement website at http://www.holisticheal.com:

tablet (200 micrograms) Folapro (Folapro is 5-methyl tetrahydrofolate, an active form of folate, which is sold by Metagenics with a license from Merck, which holds the patent on synthesis).

tablet Intrinsic B12/folate (This includes 200 micrograms of folate as a combination of folic acid, 5-methyl tetrahydrofolate, and 5-formyl tetrahydrofolate, aka folinic acid or leucovorin (another active form of folate), 125 micrograms of vitamin B12 as cyanocobalamin, 22.5 milligrams of calcium, 17.25 milligrams of phosphorus, and 5 milligrams of intrinsic factor)

(up to) 2 tablets (Its best to start with tablet and work up as tolerated) Complete vitamin and ultra-antioxidant from Holistic Health Consultants (This is a multivitamin, multimineral supplement with some additional ingredients. It does not contain iron or copper, and it has a high ratio of magnesium to calcium. It contains antioxidants, some trimethylglycine, some nucleotides, and several supplements to support the sulfur metabolism.)

1 softgel capsule Phosphatidyl Serine Complex (This includes the phospholipids and some fatty acids)

1 sublingual lozenge Perque B12 (2,000 micrograms hydroxocobalamin with some mannitol, sucanat, magnesium and cherry extract)

1 capsule SAMe (200 mg S-adenosylmethionine)

1/3 dropper, 2X/day Methylation Support Nutriswitch Formula (This is an RNA mixture designed to help the methylation cycle. It is not essential, but is reported to be helpful.)

Note that I have specified hydroxocobalamin rather than methylcobalamin as the main supplemental form of vitamin B12. Ive done this to accommodate patients who may have downregulating polymorphisms in their COMT (catechol-O-methyltransferase) enzyme, which many CFS patients seem to have. If they do not have these polymorphisms, methylcobalamin would be more effective, but in this simplified treatment, the patients polymorphisms will not be known. I am also including a small amount of SAMe, which is also a compromise, since the amount needed will again depend on COMT polymorphisms, which will not be known for this simplified treatment. The amount of B12 specified is also a compromise, since those with certain polymorphisms will benefit from a higher dosage than will those without them.

After this treatment is begun, you can expect the patient to feel worse initially, and I think it would be proper and wise to make the patient aware of this before the treatment is begun. It is necessary to determine whether this feeling is occurring because the treatment is working and the patients body is beginning to detox and kill viruses, or whether it is occurring because the patient does in fact have upregulation polymorphisms in their CBS (cystathionine beta synthase) enzyme, in which case you will have to move on to the more complicated complete treatment regimen. Which of these is the case can be determined by taking spot urine samples for a urine toxic metals test and a urine amino acids test from Doctors Data Laboratories. These can be ordered through Dr. Yasko (at http://www.testing4health.com) if you would like to receive her interpretation of the results, or they can be ordered directly from Doctors Data Laboratories (http://www.doctorsdata.com). If the toxic metals are elevated on the urine toxic metals test, this will indicate that the patient has begun to detox, which is desirable. If taurine and ammonia are elevated on the urine amino acids test, this will suggest that the patient does have CBS upregulation polymorphisms, in which case you will have to stop this treatment and move to the more complicated approach described below. It would be best to do this treatment for a week or two before doing the urine tests, so that meaningful results can be obtained on these tests, unless the patient cannot tolerate it. If the latter is the case, then you will have to go on to the more complicated treatment approach described below.

As I have emphasized, the simplified treatment approach may or may not be tolerated by a particular patient, and I will explain why it might not be tolerated later in this discussion.

Now I will move on to the more complicated treatment approach that I currently believe will be necessary for most of the patients. I will not supply all the details of this treatment approach in this letter, but will try to give you an overall picture of the sequence of steps involved. I recommend reading Dr. Yaskos book The Puzzle of Autism, and consulting her other materials as well. These are available from http://www.amazon.com by searching on Amy Yasko.

Before getting into this treatment approach, I first want to discuss some important issues, and then I will discuss the treatment, step by step:

1. It is necessary to minimize the use of pharmaceuticals in treating CFS patients. There are at least two reasons for this. As you know, the use of pharmaceuticals is based on their being eliminated at certain rates by the bodys detox system, found primarily in the liver, kidneys and intestines. However, many CFS patients have polymorphisms in their detox enzymes, including CYP450 enzymes and Phase II detox enzymes. (If desired, these can be characterized by the Detoxigenomic panel offered by http://www.genovations.com). Because of these polymorphisms, many patients are genetically unable to detox pharmaceuticals at normal rates, and cannot tolerate them. In addition to this, all patients who have the glutathione depletion and methylation cycle block suffer from biochemical inhibition of their detox systems, whether they have these polymorphisms or not. Because of these two factors, CFS patients suffer from the toxic effects of pharmaceuticals. Treatment using nutritional supplements is necessary, and some herbals can be tolerated as well.

2. Because of the broad nature of the current case definition for CFS, the population defined by it is very heterogeneous. It is likely that the pathogenesis model I have presented for CFS will not fit all patients. For this reason, I recommend a relatively inexpensive glutathione measurement initially, such as the red blood cell total glutathione test offered by http://www.immuno-sci-lab.com (phone them for details) or by Mayo Laboratories. Perhaps a better test is the serum reduced glutathione test offered as part of the Comprehensive Detox Panel at http://www.gdx.net/home/assessments/detox/reports/. If a below-normal value is found in either of these tests, I think that there is a good chance that this pathogenesis model fits the patient.

3. Different patients have different genetic polymorphisms in the enzymes and other proteins that impact the methylation cycle and the associated biochemical cycles and pathways. Some of these polymorphisms will have important impacts on the choice of specific parts of the treatment program. In using the more complicated treatment approach, it will be necessary to characterize the polymorphisms before it will be possible to make some of the decisions about selection of particular treatment aspects. The most comprehensive panel for this is Dr. Yaskos Comprehensive Basic SNP (single nucleotide polymorphism) Panel I, available from http://www.testing4health.com. Dr. Yasko has selected the polymorphisms on this panel by correlating their presence with severity of autism symptoms and with the results of biochemical testing (mainly spot urine tests for organic acids, amino acids, and essential and toxic metals). This is a somewhat unorthodox method that jumps over the usual intermediate steps involved in studying polymorphisms, and there is not universal agreement about her results in the research community, but I think Dr. Yaskos treatment outcomes are speaking for themselves, as can be seen from the voluntary testimonials of parents of autistic children on the parents discussion group at http://www.autismanswer.com. As a researcher, of course, I look forward to the day when these polymorphisms will be thoroughly researched and characterized, and have encouraged those involved in such work to forge ahead. The results from this genetic panel require interpretation. One can either study Dr. Yaskos materials to gain her insights on interpreting the results in general, or order her interpretation of the particular results, which is called a Genetic Analysis Report or GAR. The GAR is a computer-generated report with some general material that applies to all the cases, and specific sections that are chosen in response to the particular genetic polymorphisms found in the individual patient. As such, the continuity of the discussion in the GAR is not what would be found in a report written from scratch for each particular patient, and it may have to be read more than once to make all the connections in ones mind, but the material contained is specific to the particular genetic panel results, and Dr. Yasko updates the material used in generating the GARs as more is learned.

4. As I have discussed in my paper, people who have been ill for an extended period of time (many months to many years) will have accumulated significant infections and significant body burdens of toxins, because both their cell-mediated immune response and their detox system will have been dysfunctional during this time. When the methylation cycle is then restarted, both the immune system and the detox system will begin to function better. When they do, pathogens and infected cells will begin to die off at higher rates, and toxins will be mobilized. The resulting detoxification will be unpleasant, and may even be intolerable. If the patient has not been prepared in certain ways, discussed below, she or he may not be willing to continue this and may drop out of the treatment program.

5. One of the most important preparatory activities is to make sure the gastrointestinal system is operating well enough to be able to absorb nutrients, including both food and the oral supplements used in the treatment, and also well enough to be able to dispose of toxins into the stools on a regular basis. If this is not done, it is likely that the treatment will not be successful. Treatments for the G.I. system, as well as for other aspects described below, are discussed in Dr. Amy Yaskos book. Some CFS patients have reported benefit from Xifaxan to treat deleterious bacteria in the gut. This antibiotic is not absorbed from the G.I. tract, so it does not present problems for the detox system.

6. Another very important aspect of the preparation is to deal with the overstimulation or overexcitation of the nervous system that is present in CFS. This probably results from several causes, including depletion of magnesium and in some cases depletion of taurine, low blood flow to the brain because of low cardiac output, glutathione depletion in the brain producing mitochondrial dysfunction, and dietary and other factors causing elevation of excitatory neurotransmitters and depletion of inhibitory neurotransmitters. It is important that this be dealt with because if it is not, the patient will be less able to tolerate the detox inherent in the treatment.

7. Another important step is to ensure that the patients nutritional status is supported. Many CFS patients are in a rather debilitated state, partly because of deficiencies of essential nutrients. They are also in a state of oxidative stress. Appropriate nutritional supplements can correct these problems at least to some degree and get the overall metabolism of the patient into a better state, so that they can better tolerate the detox part of the treatment.

8. Particular organs or systems may not be functioning well and may need extra nutritional or herbal support. Which ones will vary from one patient to another, so this part of the treatment must be tailored to the individual patient.

9. Chronic bacterial infections should be addressed. According to Dr. Yasko, females in particular appear to be prone to streptococcal infections. She also finds that aluminum appears to be associated with the bacteria, so that when the bacteria die off, aluminum is excreted. While antibiotics can be used, there are downsides to this, both in terms of difficulty in detoxing some of the antibiotics and in terms of killing beneficial intestinal flora and encouraging deleterious ones, such as Clostridia dificile. In addition, some CFS patients have experienced tendon problems from the fluoroquinolone antibiotics. Dr. Yasko prefers natural antimicrobial treatments.

10. When the methylation cycle is restored, the normal detox system is able to deal with more of the toxins. Dr. Yasko also uses low doses of oral EDTA, but not the sulfur-containing chelators (DMSA and DMPS), to help remove aluminum as well as other metals, including mercury. DMSA and DMPS are not used because they can also bind glutathione, so that if a patient who is low in glutathione receives these chelators, their glutathione status can be worsened. Also, DMSA and DMPS are rich in sulfur, and CFS patients with certain polymorphisms cannot tolerate them. She also uses some natural RNA formulas for detoxing, as well as for a number of other purposes during the treatment. These are somewhat costly, and are not required as part of the treatment, but are reported to be helpful.

11. As mentioned in item 3 above, it is important to characterize relevant polymorphisms prior to bringing up the methylation cycle operation. One of the most important aspects of this is to evaluate polymorphisms in the CBS (cystathionine beta synthase) enzyme, which is located at the entrance to the transsulfuration pathway and converts homocysteine to cystathionine. Although this is somewhat controversial within the research community, Dr. Yasko finds that certain polymorphisms cause an increase in the activity of this enzyme. The result is that there is too large a flow down the transsulfuration pathway, and somewhat counterintuitively this results in lowered production of glutathione, as well as elevated production of taurine, ammonia, sulfite and hydrogen sulfide. The last three of these substances are toxins. If a patient has CBS polymorphisms, it is necessary to deal with this aspect before restarting the methylation cycle. If this is not done, efforts to start this cycle will result in increased production of these toxins. This may explain why some patients cannot tolerate direct efforts to build glutathione using sulfur-containing substances, while others derive some benefit from this. Dealing with this CBS upregulation situation can take a month or longer.

12. Only after all these issues have been addressed is the patient ready to start supplementing with larger amounts of the folates and cobalamins to begin major restoration of operation of the methylation cycle.

13. As you can see from the diagram in my pathogenesis paper, there are two possible pathways from homocysteine to methionine. One involves the enzyme methionine synthase, which requires methylcobalamin and is linked to the folate cycle as well, and the other involves the enzyme betaine homocysteine methionine transferase (BHMT), and requires trimethylglycine or one of the phospholipids (phosphatidyl-serine, -choline, or -ethanolamine). Ultimately, it is important to get the methionine synthase pathway back into operation, but in Dr. Yaskos practice it has been found that it is easier to start up the BHMT pathway first. I think the reason is that S-adenosylmethionine (SAMe) interacts with methionine synthase, and by first starting up the BHMT pathway, one ensures that there is enough SAMe to start up the methionine synthase pathway.

14. As these steps are taken, the immune system and the detox system will start to function at higher levels, and die-off and detox will begin. These processes are monitored using periodic spot urine testing, and decisions about when to proceed to the next step in the treatment program are based on this urine testing.

15. Viral infections are dealt with naturally as the immune system recovers, though Valtrex is used in some cases. As the viruses die off, it is observed that heavy metal excretion increases. Heavy metal excretion is tracked using periodic spot urine tests and is plotted as a function of time to determine the progress.

16. When appropriate indications are seen in the urine testing, the BHMT pathway is slowed using dimethylglycine, which is a product of the BHMT reaction, and thus exerts product inhibition on it. This shunts the flow through the parallel methionine synthase pathway. This has the effect of bringing up the folate cycle, which is linked to it, and also bringing up the biopterin cycle, which is linked to the folate cycle. The folate cycle is needed to make new RNA and DNA to proliferate new cells, such as T cells in cell-mediated immunity. The biopterin cycle is necessary for the synthesis of serotonin and dopamine as well as for the operation of the nitric oxide synthases. Some patients benefit from direct supplementation of tetrahydrobiopterin, often in very small amounts.

17. The treatments up to this point should resolve most of the symptoms of CFS. The last step is to support remyelination, which has been dysfunctional during the time when the methylation cycle was blocked, because methylation is necessary to synthesize myelin basic protein. This should improve the operation of the nervous system.

That is a rough outline of the treatment process, and again, I refer you to Dr. Yaskos materials for the details.

Im sorry that this treatment approach is not simple, quick, easy and inexpensive, but unfortunately, I think this rather complex process is what is required, for the reasons Ive given. I hope this is helpful, and I would very much appreciate it if you decide to try this treatment approach, that you will keep me informed of how it works out for your patients. If I can answer questions that come up, please let me know.

Rich Van Konynenburg
richvank@aol.com
 

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Documents by Rich Van Konynenburg Part 6

6.
July 18, 2007


Simplified Treatment Approach Based on the Glutathione Depletion-Methylation Cycle Block Pathogenesis Hypothesis for Chronic Fatigue Syndrome (CFS)


by
Rich Van Konynenburg, Ph.D.



I first want to note that I am a researcher, not a clinician, and that what I have to say here should not be interpreted as medical advice.

In January, 2007, in an effort to shed light on the validity of the Glutathione Depletion-Methylation Cycle Block (GD-MCB) Pathogenesis Hypothesis for Chronic Fatigue Syndrome (CFS), and to help clinicians to develop a practical treatment based on this Hypothesis, I suggested a simplified treatment approach. This approach is designed to lift the hypothesized methylation cycle block and to restore glutathione levels to normal. It was derived from a complete treatment program developed by Dr. Amy Yasko, N.D., Ph.D., for autism and other disorders that are also thought to involve methylation cycle block and glutathione depletion.

A fairly large number of people with chronic fatigue syndrome (PWCs) have since voluntarily chosen to try this treatment approach, many with the help of their physicians. It now appears to be working well for many of these PWCs, but some serious adverse effects have also been reported in a few cases. Controlled testing of this treatment approach has not yet been done, but early results from these volunteers suggest that this would not only be worthwhile in view of indications of the efficacy of this approach, but also necessary to ensure its safe application.

I would like to describe the history of the Glutathione Depletion-Methylation Cycle Block (GD-MCB) Hypothesis and the simplified treatment approach that is based upon it, and point out what I think the early treatment results mean with regard to this Hypothesis. But before I do so, I want to emphasize the following cautionary statements:

While in the past I have stated that PWCs should cooperate with their physicians in trying the simplified treatment approach, as a result of experiences with this treatment approach that have been reported to me recently, I have concluded that it must be entered upon only under the supervision of a licensed physician, to make sure that if there are individual issues that arise, they can be taken care of immediately. The treatment approach itself consists only of nonprescription nutritional supplements that are normally found naturally in the body and are necessary for normal biochemistry to take place. It would thus appear to be fairly benign on its surface. However, it is now clear to me that restarting the methylation cycle after it has been blocked for extended periods, particularly in those PWCs whose general health has become quite debilitated, or those who have certain respiratory, cardiac, endocrine or autoimmune conditions, can present some serious challenges and hazards. I suspect that there is still much more to be learned about possible adverse effects of applying this treatment approach among the very heterogeneous CFS population, and this work properly lies in the province of clinicians. I believe that I have now carried this work as far as a nonclinical researcher can appropriately carry it. I am hopeful that clinicians will apply and test this treatment approach in order to learn how it may be safely, effectively, and practically utilized to treat PWCs, and it appears that this is now beginning to occur.

As some readers will probably be aware, I presented a poster paper describing the above-mentioned Hypothesis at the most recent IACFS conference in Florida last January. It can be found on the internet on Cort Johnsons website:http://phoenix-cfs.org/GSHMethylationVanKonynenburg.htm

This Hypothesis has not yet been published in the peer-reviewed literature. My emphasis up to now has instead been upon addressing questions that remained to be answered before this Hypothesis could be considered for clinical testing and application in the form of a practical treatment approach.

The history of the development of this Hypothesis is as follows:

In 1999, I first learned from two public talks presented by Dr. Paul Cheney that many PWCs are depleted in glutathione, and that taking steps to build glutathione can be helpful to many. Dr. Derek Enlander has since reported to me that he began injecting glutathione as part of a complex into CFS patients as early as 1991. I also found that Dr. Patricia Salvato had reported in early 1998 on her use of intramuscular injection of glutathione in 276 patients. Over the years, quite a few CFS doctors have incorporated means of building glutathione into their protocols, either by administration of glutathione itself by various routes, or by oral supplementation with glutathione precursors, such as whey protein products.


What is glutathione, and what does it do?

Glutathione is technically a tripeptide, which can be thought of as being like a very small protein, as it is made up of only three amino acids (while proteins are made up of many more). It is present naturally in every cell of the body, as well as in the blood, the bile and the fluid lining the lungs. The liver is normally the main producer of glutathione in the body. Glutathione plays many important roles in the body. Probably the best known are its protection against oxidative stress produced by oxidizing free radicals and other reactive oxygen species, its support for the immune system, and its role in removing a variety of toxic substances from the body.


When glutathione becomes somewhat depleted, as it does in many cases of CFS, its normal functions are simply not performed well. Many of the symptoms of CFS as well as observed abnormal results on specialized lab tests can be traced directly to glutathione depletion, as I described in an earlier AACFS poster paper in 2004. It can be found on Cort Johnsons website:

http://phoenix-cfs.org/GluAACFS04.htm

As I noted in that paper, while direct efforts to build glutathione are helpful to many PWCs, for most they provide only temporary improvement and do not result in permanent restoration of glutathione levels or a cure for CFS. I suspected that a vicious circle mechanism must be involved in holding down the glutathione levels in CFS.

Then, later in 2004, an important paper was published involving research into autism by S. Jill James and her coworkers: Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism
(Am J Clin Nutr. 2004 Dec;80(6):1611-7). The study they reported showed that glutathione is depleted also in autism, and that this depletion is associated with a block in what is known as the methylation cycle (or methionine cycle).


Before discussing this further, I want to address the question What is the methylation cycle, and what does it do?

The methylation cycle is part of the basic biochemistry of the body, and is believed to operate in every cell. This cycle includes the amino acid methionine as well as S-adenosylmethionine (SAMe, used as a supplement by some PWCs), S-adenosylhomocysteine, and homocysteine. Some homocysteine is converted back to methionine, thus completing the cycle. There are two parallel pathways from homocysteine to methionine. They are the methionine synthase pathway and the BHMT (betaine homocysteine methionine transferase) pathway. The methylation cycle is directly linked to the folate metabolism and to the transsulfuration pathway.

The methylation cycle performs many vital roles in the body. First, by means of SAMe, it supplies methyl (CH3) groups to many different biochemical reactions. Some of them produce substances such as coenzyme Q-10 and carnitine, which have been found to be depleted in many PWCs. Methylation also plays an important role in silencing certain DNA to prevent its expression, and in producing myelin for the brain and nervous system.

The methylation cycle also controls the bodys response to oxidative stress, by governing how much homocysteine is diverted into the transsulfuration pathway, which contributes to determining the rate of synthesis of glutathione.

A third important role of the methylation cycle is to control the overall sulfur metabolism of the body. In this role, besides controlling glutathione synthesis, it exerts control over synthesis of several other important substances, including cysteine, taurine and sulfate.

When the methylation cycle is blocked at the enzyme methionine synthase, these important roles are not carried out properly. In addition, a methylation cycle block necessarily involves a block in the folate metabolism, to which it is intimately linked, and this interferes with synthesis of new DNA and RNA, among other important effects.

Two of the most significant effects of a methylation cycle block are that neither the immune system nor the detox system can operate properly. If the methylation cycle remains blocked for an extended period of time, infections and toxins can be expected to build up in the body.


After I read the paper by S. Jill James and her coworkers (referred to above), I began to suspect that the genetic factors and biochemical mechanism they had found in autism are the same or similar to those important in CFS. A block earlier than glutathione in the sulfur metabolism, at the methylation cycle, could explain the persistent glutathione depletion in CFS. It began to dawn on me that other aspects of CFS that did not appear to be explained by glutathione depletion per se could be explained by a methylation cycle block.

It was difficult for me initially to believe that there was a connection between autism and CFS, given the profoundly different symptoms and different affected population groups (primarily boys in autism, compared to primarily adult women in CFS). However, I knew of others who had publicly suggested such a connection in the past (Dr. Michael Goldberg in the U.S. and Prof. Malcolm Hooper in the UK), and this new study seemed to provide more detailed evidence of this connection at the genetic and biochemical levels.

I began to look into autism in more detail, and I attended the Long Beach conference of the Defeat Autism Now! (DAN!) project in October of 2005. The more I learned about autism, the more I became convinced that we are dealing in CFS with many of the same issues at the genetic and biochemical levels. The book by Drs. Jon Pangborn and Sidney Baker entitled Autism: Effective Biomedical Treatments (Autism Research Institute, September, 2005) provides excellent explanations of the biochemistry of autism, and the parallels with CFS can be seen there.

I want to emphasize that I did not develop the Glutathione Depletion--Methylation Cycle Block Hypothesis out of thin air. The autism researchers had already provided a convincing basis for this model in that disorder. S. Jill James and coworkers did much of the clinical work that underlies it. Richard Deth and his coworkers had worked out much of the theory of the methylation cycle block and had applied it to autism. Professors James and Deth had been presenting talks on their work at autism conferences. The physicians in the DAN! project (as well as Dr. Amy Yasko, though I had not yet learned of her work when I began to understand the importance of the methylation cycle block) had already been treating autism cases by measures intended to lift the methylation cycle block. What I did was to apply the results of their work to CFS, and to present a detailed biochemical and symptomological case to support the proposition that this model also applies to CFS.


What is the essence of the Glutathione Depletion-Methylation Cycle Block Hypothesis for the Pathogenesis of CFS?

This hypothesis proposes first that in order to develop CFS, a person must have inherited genetic variations (also called SNPs or single-nucleotide polymorphisms) in a combination of certain genes that code for enzymes and other proteins associated with the methylation cycle and related pathways.

The hypothesis further proposes that the person must also be subjected to some combination of a variety of long-term physical, chemical, biological or psychological/emotional stressors that lowers glutathione levels to the point that a block occurs in the enzyme methionine synthase in the methylation cycle, in response to the oxidative stress that is inherent in glutathione depletion. The formation of this block is aided by the presence of the inherited genetic polymorphisms. This lowering of glutathione levels also simultaneously removes the normal protection that glutathione provides to vitamin B12 and allows the accumulation in the body of toxins that can interfere with the utilization of vitamin B12, mercury perhaps being the dominant one.

This hypothesis further proposes that the result of the above is that the level of methylcobalamin is held too low to support the methionine synthase reaction, and it therefore becomes chronically blocked. This produces a vicious circle mechanism that causes CFS to become a chronic condition.

Finally, this hypothesis proposes that all the features of CFS can be shown to originate from this root cause. While I have not yet demonstrated this for every feature of CFS, the first paper cited in this article explains a large number of them in detail on this basis. Previous treatments for CFS have dealt with downstream issues in the pathogenesis, but they have not completely addressed this root cause, and, in my opinion, that is why we have not seen many completely cured CFS cases up to now. Note that when I refer to cured cases, I do not mean that the genetic predisposition has been removed, but that the PWCs are healthy from the symptomatic point of view.


As I became more convinced of the parallels between autism and CFS, I began to point out this connection to some clinicians directly and to others via the internet, as well as to PWCs in internet groups, and I began encouraging them to consider the treatments that were being used by the Defeat Autism Now! project to treat autism, focusing on unblocking the methylation cycle. A small number of PWCs tried this approach, and while some initial benefits were observed from this, it did not seem to be an effective approach over the long term, at least in the way I was suggesting that it be applied.
I then learned of the work of Dr. Amy Yasko, N.D., Ph.D. in autism. I studied her materials, including the book written by her and Dr. Garry Gordon entitled The Puzzle of Autism, joined her discussion forum at
http://www.ch3nutrigenomics.com
and eventually attended her teaching seminar in Boston in October of 2006. After considering all of this, I concluded that it was likely that her treatment approach could help many PWCs, so I decided to emphasize it. An important feature of her work is her effort to tie the genetics of individuals to the biochemistry and to do tailored treatment based on genetics, again directed toward correcting the methylation cycle block, but also incorporating support for a variety of body systems and organs. I also learned that Dr. Yasko had had some experience in using her approach in cases of CFS as well as a variety of adult neurological disorders, but that she was currently focusing primarily on autism.

I wrote a short article pointing out the connection I was seeing between autism and CFS and pointing to these treatments, and it was published in the October 2006 issue of the Townsend Letter. This can be found at the following url:

http://findarticles.com/p/articles/mi_m0ISW/is_279/ai_n16865315

Quite a few PWCs acted on my suggestion to try Dr. Yaskos full treatment approach, and they are currently continuing with it. Many of them participate in the Yahoo cfs_yasko internet group, a group that was specifically formed for them, which can be found at

http://health.groups.yahoo.com/group/CFS_Yasko/

Most of them are currently in the first step of this treatment approach, and they are generally reporting that this treatment is producing considerable detoxification of their bodies, as monitored by urine testing. The full Yasko treatment approach involves detailed genetic and biochemical testing, and is rather expensive and complex. While some PWCs are in a position to pursue this treatment and appear to be doing so successfully, it seemed to me that there are many others for whom this approach is beyond reach, either for economic or cognitive reasons or both. Practicing physicians have generally also found this treatment to be somewhat cumbersome to incorporate into their practices because of the complexity and the considerable time and expense required to tailor the treatment to each individual patient.

In response to these issues and to requests from clinicians for a written description of practical CFS treatment based on this hypothesis, I wrote an article that outlined the full Yasko treatment approach, but also described a simplified treatment approach that incorporated nutritional supplements that form the core of Dr. Yasko's so-called "step 2." This is the step in her treatment program that involves actually lifting the block in the methylation cycle. This article can be found on Cort Johnsons website:

http://phoenix-cfs.org/GSHMethylationTreatmentKonynenburg.htm

When I proposed this approach, I did not know what fraction of the PWC population would be able to tolerate the resulting die-off of pathogens and mobilization of toxins that would result from the consequent ramp-up of the immune system and the detox system after they had been dysfunctional for such long times during the long illness duration of many PWCs. As can be seen in the above-cited article, I was not very optimistic. However, I still thought it was worth a try, since the existing full Yasko approach did not seem to have the characteristics necessary for wide use in the CFS community, and it appeared that lifting the methylation cycle block was the key to recovery for many PWCs. With the help of a woman (name omitted to protect her privacy) who is currently receiving the full Yasko treatment herself, I selected a basic set of seven supplements from Dr. Yasko's step 2, as discussed in the above-mentioned article.

After this article was presented on the internet, another woman (name omitted to protect privacy) decided to try this simplified treatment approach. As a result of benefits that occurred almost immediately, she reported her experience on the ImmuneSupport.com CFS discussion board. In response to her reports, others began to try this approach. This began in February of 2007, and the number of people on this treatment has continued to grow, the longest duration of treatment now being somewhat more than four months, ranging down to some as short as a few days.

As experience has been gained, I have shortened the initial list of seven supplements in the suggested simplified treatment approach to five, as described below. The cost of the basic five supplements is somewhat more that two dollars per day.

After suggesting this treatment approach, I initially attempted to maintain a list of those who were trying it, based on reports I received from physicians and individual PWCs. However, when the number of people I was aware of grew past 60, I no longer felt that I could maintain a complete count. Many have been reporting their progress periodically to the ImmuneSupport board, and a new Yahoo group also has been established recently for PWCs trying this approach, at the following url:

http://health.groups.yahoo.com/group/simplified_protocol_support/


I will now describe the current version of the simplified treatment approach based on the Glutathione Depletion--Methylation Cycle Block Hypothesis.

All the supplements used in this approach can be obtained from the http://www.holisticheal.com site, or all but the Complete Vitamin and Neurological Health Formula can be obtained elsewhere. Please note that I have no financial interest in any of the supplements that I have suggested in the simplified treatment approach.

As I mentioned above, these supplements and dosages have been selected by Dr. Amy Yasko as part of her complete treatment approach, as described in her book "The Puzzle of Autism." Substitutions or changes in dosages may not have the same effect as the combination of supplements and dosages suggested, although it is wise to start with smaller dosages than those given below, and it is also wise to start with one supplement at a time and work up to the total of five supplements, to test carefully for adverse effects. It will take somewhat longer to reach the suggested combination and dosages by this route, but early experience has shown that this is prudent.

As I also mentioned above, this treatment approach should be attempted only under the supervision of a licensed physician, so that any individual issues that arise can be properly dealt with. It's important to "listen to ones body" when doing this treatment. If the detox becomes too intense to tolerate, or if significant adverse effects appear, as described below, the supplements should be discontinued, and the situation should be evaluated immediately by a licensed physician. This treatment will produce die-off and detox symptoms as the immune system and detox system come back to normal operation and begin ridding the body of accumulated infections and toxins. This appears to be inevitable, if health is to be restored. It may require considerable judgment and clinical experience on the part of the physician to distinguish between inevitable die-off and detox symptoms and possible adverse effects.

While die-off and detox symptoms are occurring, there will also likely be improvement in CFS symptoms over time. The intensity of the expected die-off and detox symptoms can be decreased by lowering the dosages of the supplements. These symptoms probably result from the bodys limited rates of excretion of toxins. If toxins are mobilized more rapidly than they can be excreted, their levels will rise in the blood, and it is likely that this will produce more severe die-off and detox symptoms. By lowering the dosages, and thus slowing the rate of mobilization of toxins, their levels in the blood can be lowered, thus ameliorating the symptoms.

The temptation to try to get better faster by increasing the dosages suggested by Dr. Yasko must be resisted. In particular, the suggested dosages for the FolaPro and the Intrinsi/B12/folate supplements should not be exceeded. Some who have done this have experienced very unpleasant levels of detox symptoms that had momentum and did not decrease rapidly when the supplements were stopped.

As improvements in energy level and cognition occur, it is tempting for PWCs to overdo activities, which, early in the treatment, can still result in crashing. It is wise to resist this temptation as well, because complete recovery will not occur overnight with this treatment approach.

I am not aware of negative interactions between the five basic supplements and prescription medications used by physicians in treating CFS. However, this treatment approach should not be attempted without considering together with a licensed physician possible interactions between the supplements included in it and any prescription medications that are being taken. This is particularly important if addition of SAMe to the basic five supplements is contemplated.

When this treatment approach is used together with prescription medications, a licensed physician must be consulted before discontinuing any prescription medications. Some of them can cause very serious withdrawal symptoms if stopped too abruptly.

If this treatment approach is begun by a PWC who is taking a thyroid hormone supplement for a hypothyroid condition, the PWC and the supervising physician should be alert to the possibility that HYPERthyroid symptoms, such as palpitations and sweats, can occur, even very soon after starting this treatment. The physician should be consulted about possibly adjusting or eliminating the thyroid hormone supplementation if this occurs.


Here are the five supplements, as found in Dr. Yaskos book The Puzzle of Autism, (p. 49) and as described in detail on her website http://www.holisticheal.com :

1. One-quarter tablet (200 micrograms) Folapro (Folapro is 5-methyl tetrahydrofolate, an active form of folate, which is sold by Metagenics with a license from Merck, which holds the patent on synthesis).

2. One-quarter tablet Intrinsic B12/folate (This includes 200 micrograms of folate as a combination of folic acid, 5-methyl tetrahydrofolate, and 5-formyl tetrahydrofolate, also known as folinic acid or leucovorin (another active form of folate), 125 micrograms of vitamin B12 as cyanocobalamin, 22.5 milligrams of calcium, 17.25 milligrams of phosphorus, and 5 milligrams of intrinsic factor)

[NOTE: Because Metagenics changed the formulation of Intrinsi/B12/folate, as of April, 2009, I am recommending that Actifolate be substituted for it, at the same dosageRich V.K.]

3. Up to two tablets (Its best to start with one-quarter tablet and work up as tolerated) Complete Vitamin and Ultra-Antioxidant Neurological Health Formula from Holistic Health Consultants (This is a multivitamin, multimineral supplement with some additional ingredients. It does not contain iron or copper, and it has a high ratio of magnesium to calcium. It contains antioxidants, some trimethylglycine, some nucleotides, and several supplements to support the sulfur metabolism.)

4. One softgel capsule Phosphatidyl Serine Complex (This includes the phospholipids and some fatty acids)

5. One sublingual lozenge Perque B12 (2,000 micrograms hydroxocobalamin with some mannitol, sucanat, magnesium and cherry extract)


The first two supplement tablets are difficult to break into quarters. One of the PWCs who is following the simplified treatment approach has suggested that an alternative approach is to crush them into powders, mix the powders together, and divide the powders into quarters using a knife or single-edged razor blade and a flat surface. The powders can be taken orally with water, with or without food, and do not taste bad.

Some people have asked what time of the day to take the supplements. A few have reported that the supplements make them sleepy, so they take them at bedtime. If this is not an issue, they can be taken at any time of the day, with or without food.

Since some questions have been asked about which components of this treatment approach are essential, and since some PWCs appear to be taking augmented versions of the simplified GD-MCB treatment approach that I wrote about in my January treatment paper (cited above), I want to offer some comments to help PWCs and their physicians to evaluate which supplements to include in treatment.

FolaPro--This is included because many PWCs have a genetic polymorphism in their MTHFR (methylene tetrahydrofolate reductase) enzyme that affects the production of 5-methyltetrahydrofolate (which is identical to the product FolaPro). This form of folate is the one used by the methionine synthase enzyme, which is the enzyme that appears to be blocked in many cases of CFS. If PWCs were to have their genetics characterized, as in the full Yasko approach, they would know for sure whether they needed this supplement, but in the simplified approach I suggest simply giving it to everyone. This should not present problems, because the total folate dose, including the FolaPro and the folates in the Intrinsi/B12/folate supplement, amounts to 400 micrograms per day, which is within the upper limit for folate supplementation for adults and for children four years of age and older, as recommended by the Institute for Medicine of the U.S. National Academy of Sciences.

Intrinsi/B12/folate--This supplement contains three forms of folate--FolaPro, folinic acid (identical to the drug leucovorin) and folic acid (the most common commercial folate supplement). It also has some cyanocobalamin (the most common commercial vitamin B12 supplement) and some intrinsic factor (identical to that normally secreted by the stomach to enable vitamin B12 absorption by the gut) as well as some other things. The folinic acid is helpful because some people can't use ordinary folic acid well, as a result of genetic issues. Also, this helps to supply forms of folate that will make up for the low tetrahydrofolate resulting from the block in methionine synthase, until this is corrected. This enzyme normally converts 5-methytetrahydrofolate to tetrahydrofolate, which is needed in other reactions. This supplement also has some intrinsic factor and some cyano-B12 to help those who have a type of pernicious anemia that results from low production of intrinsic factor in the stomach and which prevents them from absorbing B12 in the gut. Vitamin B12 is needed by the enzyme methionine synthase, in the form of methylcobalamin, but this supplement has cyanocobalamin, which must be converted in the body by glutathione and SAMe to form methylcobalamin. As glutathione and SAMe come up, this should become more effective.

Complete Vitamin and Ultra-Antioxidant Neurological Health Formula--This is Dr. Amy Yasko's basic high-potency general nutritional supplement. This is a general foundation for the biochemistry of the body. I suspect that this supplement is better for PWCs trying the simplified treatment approach than other high-potency general nutritional supplements, because it has particular things needed for dealing with a methylation cycle block, including some TMG and sulfur metabolism supplements as well as nucleotides. It is also high in magnesium and low in calcium, and has no iron or copper. As far as I know, there are no other supplements with all these characteristics. I therefore believe that this supplement is important for use in the treatment approach. The TMG helps to stimulate the BHMT pathway in the methylation cycle, and that helps to build SAMe, which is needed by the parallel methionine synthase pathway. The nucleotides will help to supply RNA and DNA for making new cells until the folate cycle is operating normally again.

Phosphatidylserine complexThis contains various phosphatidyls and fatty acids, which will help to repair damaged membranes, including those in cells of the brain and nervous system. It should help with the cortisol response. It also has some choline, which can be converted to TMG (betaine) in the body, to help stimulate the BHMT pathway.

Perque B12--This is sublingual hydroxocobalamin. The dosage is fairly large, in order to overcome the blocking of B12 by toxins such as mercury in CFS. As I mentioned above, B12 is needed to stimulate the activity of methionine synthase. Methylcobalamin is actually the form needed, but some people cannot tolerate supplementing it for genetic reasons, and I'm also concerned that people with high body burdens of mercuric mercury could move mercury into the brain if they take too much methylcobalamin. Methylcobalamin is the only substance in biological systems that is known to be able to methylate mercury. (Note that methylcobalamin is the substance used by bacteria to perform methylation on environmental mercury, and the resulting methylmercury is concentrated in the food chain up to the large predatory fish and enters the human diet.) Methylmercury can readily cross the blood-brain barrier. Methylation of mercury by methylcobalamin has been reported in the literature to occur within the bodies of guinea pigs in laboratory experiments. Perque B12 is sublingual to compensate for poor B12 absorption in the gut of many people.

There are also two other supplements that were included in the earlier version of the simplified approach:

SAMe--This is normally part of the methylation cycle. Depending on genetic variations (SNPs or polymorphisms) some PWCs can't tolerate much of this, and some need more. If PWCs can't tolerate this, they should leave it out, because stimulating the BHMT pathway, using TMG and choline in the other supplements, will probably make enough SAMe for them naturally. For people who can tolerate SAMe, a dosage of 400 mg per day is suggested.

Methylation Support RNA Formula--This is a mixture of RNAs that is designed to help the methylation cycle. It is somewhat expensive, and is not essential, but is helpful if people can afford it. Dr. Amy Yasko has since advised me that if a PWC desires to take only one of her RNA Products, she would suggest choosing either the Health Foundation RNA Formula or the Stress Foundation RNA Formula, rather than the Methylation Support RNA Formula, as being most helpful to take the edge off the detox.

The above suggested list of supplements may not be optimum, and future clinical studies may produce an improved protocol. I think that the forms of folate and B12 are probably essential, because they target what I believe is the root issue in the abnormal biochemistry of CFS. I think the Complete supplement is important to support the general biochemistry and to correct deficiencies that might be present in essential nutrients, as well as to support the methylation cycle and the rest of the sulfur metabolism. I think that some way of stimulating the BHMT pathway is important, also, to bring up SAMe, and the phosphatidyl serine complex provides this, as does the TMG included in the Complete supplement.

With regard to possible interactions between the supplements in the simplified treatment approach and other supplements that PWCs may be taking, I am aware of two: (1) I would not recommend taking additional folate beyond what is suggested above, since the various forms of folate compete with each other for absorption, and it is important to get enough of the active forms into the body. Also, it is important not to take too much folate, as mentioned above, because this can cause the detox to develop a momentum, so that it will take some time to slow it down if you want to do that. (2) I would also not recommend taking additional trimethylglycine (TMG, also called betaine) or additional forms of choline, such as phosphatidylcholine or lecithin, since that may stimulate the BHMT pathway too much at the expense of the methionine synthase pathway. The betaine-HCl used to augment stomach acid is something that may have to be omitted while doing this treatment, too, since it will contribute to this stimulation.

Adding glutathione support will help some people, as will adding molybdenum.
As more things are added, though, one is moving toward the full Yasko approach, which is more complicated and expensive. If this is done, I recommend that it be done with the guidance of Dr. Yasko and under the supervision of a personal physician. The simplified treatment approach appears to work well by itself for many PWCs, but others may find that the die-off and detox (or even adverse effects) from this approach used by itself are too severe. In those cases, the PWCs could consult The Puzzle of Autism, sold on Amazon.com, to consider together with their doctors what else discussed there might help them. If the simplified approach seems to help to some degree, and it captures ones attention for that reason, but it still either does not accomplish all that is desired, or it is not tolerated, then perhaps the next step would be to consider the full Yasko treatment. At least then there would be stronger motivation to look into it. Otherwise, it can appear very daunting to many PWCs.

The reported responses to this treatment approach have mainly involved a combination of two categories of effects: (1) improvements in some of the common CFS symptoms (some of them quite rapid and profound), and (2) intensification or initial appearance of a variety of symptoms that appear to result from increased detoxification and immune system attack on infections. The former are most welcome, and they are what continue to motivate the people on this treatment, in the face of the detox and die-off symptoms, which are unpleasant but appear to be inevitable, given the large body burdens of toxins and infections that many PWCs have accumulated during their illness, lacking adequate detox capability and cell-mediated immune response during that time.

In addition to these main responses, a few PWCs have reported adverse effects, some of them quite serious. These are discussed below. A few of those who have started the treatment have stopped it for various reasons, including adverse effects. Some have taken breaks from the treatment and have then returned to it or are planning to do so.

While this informal testing of the simplified treatment approach currently is not being carried out in a controlled fashion, and while not all the PWCs trying it are using the complete suggested complement of supplements, it is nevertheless possible to state that the treatment appears to be working for quite a few PWCs, though not all.

The following symptoms of CFS have been reported to have been corrected by various PWCs on this treatment. Note that these are gathered from reports from many PWCs, so that not all have been reported by a single person.

1. Improvement in sleep (though a few have reported increased difficulty in sleeping initially).
2. Ending of the need for and intolerance of continued thyroid hormone supplementation.
3. Termination of excessive urination and night-time urination.
4. Restoration of normal body temperature from lower values.
5. Restoration of normal blood pressure from lower values.
6. Initiation of attack by immune system on longstanding infections.
7. Increased energy and ability to carry on higher levels of activity without post-exertional fatigue or malaise. Termination of crashing.
8. Lifting of brain fog, increase in cognitive ability, return of memory.
9. Relief from hypoglycemia symptoms
10. Improvement in alcohol tolerance
11. Decrease in pain (though some have experienced increases in pain temporarily, as well as increased headaches, presumably as a result of detoxing).
12. Notice of and remarking by friends and therapists on improvements in the PWC's condition.
13. Necessity to adjust relationship with spouse, because not as much caregiving is needed. Need to work out more balanced responsibilities in relationship in view of improved health and improved desire and ability to be assertive.
14. Return of ability to read and retain what has been read.
15. Return of ability to take a shower standing up.
16. Return of ability to sit up for long times.
17. Return of ability to drive for long distances.
18. Improved tolerance for heat.
18. Feeling unusually calm.
19. Feeling "more normal and part of the world."
20. Ability to stop steroid hormone support without experiencing problems from doing it.
21. Lowered sensation of being under stress.
22. Loss of excess weight.


The following reported symptoms, also gathered from various PWCs trying this simplified treatment approach, are those that I suspect result from die-off and detox:

1. Headaches, heavy head, heavy-feeling headaches
2. Alternated periods of mental fuzziness and greater mental clarity
3. Feeling muggy-headed or blah or sick in the morning
4. Transient malaise, flu-like symptoms
5. Transiently increased fatigue, waxing and waning fatigue, feeling more tired and sluggish, weakness
6. Dizziness
7. Irritability
8. Sensation of brain firing: bing, bong, bing, bong, brain moving very fast
9. Depression, feeling overwhelmed, strong emotions
10. Greater need for healing naps.
11. Swollen or painful lymph nodes
12. Mild fevers
13. Runny nose, low grade sniffles, sneezing, coughing
14. Sore throat
15. Rashes
16. Itching
17. Increased perspiration, unusual smelling perspiration
18. Metallic taste in mouth
19. Transient nausea, sick to stomach
20. Abdominal cramping/pain
21. Increased bowel movements
22. Diarrhea, loose stools, urgency
23. Unusual color of stools, e.g. green
24. Temporarily increased urination
25. Transiently increased thirst
26. Clear urine
27. Unusual smelling urine
28. Transient increased muscle pain


Finally, the responses reported below are more serious, and I would classify them as adverse effects of the treatment. This list includes all the adverse effects of which I am aware at the time of writing this article, but I suspect that as more PWCs try this treatment with the assistance of their physicians, this list will grow. I am describing these as they have been reported on the ImmuneSupport CFS discussion board by the PWCs who experienced them. Though this information may be incomplete, and causeeffect relationships are difficult to determine exactly from the available information, Im hopeful that it will be helpful to clinicians and other PWCs:

1. One person had had a history of severe pesticide exposure and also autonomous multi-nodular goiter, which she described as follows: Gradually the right lobe grew to over 4 cm x 4cm, and had to have right lobe out. . . This same surgeon made the decision to leave the left lobe in, as I had always had trouble with thyroid med back then too. So, they restarted my Synthroid and I stayed on that for [a] few more years. I ALWAYS had shortness of breath and became VERY tachycardic upon ANY activity. . . This person started the simplified treatment approach on March 21, 2007 (actually using higher dosages than suggested for FolaPro and Intrinsi/B12/folate). On May 19, she went to an emergency room with tachycardia, chest pain, trouble breathing, trouble sleeping, elevated blood pressure and fever of 100.7 F. She was admitted to the hospital and released the next day. No evidence was found for heart attack. This person later reported the following: I followed up with my PCP and had CT scan of neck and chest and my goiter is causing tracheal compression, again, and breathing is VERY hard. . . My area hospitals can't do this surgery because my goiter grows substernal, deep in my chest. This person has expressed a desire to continue the simplified treatment approach, but is currently exploring the possibility of first having additional surgery on the multinodular goiter.

2. A second person had a history of lung problems due to both carbon monoxide exposure and exposure to molds, as well as heart-related symptoms. She started part of the simplified treatment approach on May 27, 2007. After having been nearly homebound for ten years, she was able to begin riding a bicycle. However, in early July, 2007, she went to an emergency room twice with severe breathing problems (shortness of breath), a fever of 99.8 to 100.1 F. that eventually lasted for sixteen days, and severe chest and left arm pain. No evidence was found for heart attack. She was diagnosed with an enlarged left atrium and diastolic dysfunction. She has currently discontinued the simplified treatment approach and is under the care of cardiologists.

3. A third person had a history of autoimmune disease, including Sjogrens syndrome. After her fourth dosage of combined FolaPro and Intrinsi/B12/folate, she experienced a moderately severe autoimmune flare, with numerous joint and soft tissue issues, fatigue, pain, etc. She also experienced a severe flare of Sjogrens syndrome, with very dry mouth, dry eyes, and severe eye pain. Six days after discontinuing the supplements, she had a thorough ophthalmology workup and was diagnosed with autoimmune scleritis. She has been given topical steroids and has reported that her eyes are greatly improved.

4. At least two persons experienced a temporary termination of peristalsis of the gut and consequent constipation after beginning the simplified treatment approach. In these two cases, induction of diarrhea cleared material from the gut, but did not restore the peristalsis. In both cases, peristalsis restarted twelve days after terminating the folate-containing supplements. One of these persons had a history of treatment with psychotropic drugs, including Klonopin. About 18 hours after starting to get relief from the constipation, she became very sick, with vomiting, vise-like headache, and shaking. She had many bowel movements over a ten-hour period, and then began to feel better. The other had a history of autoimmune diseases, including Sjogrens syndrome and Autoimmune Ovaritis, as well as diastolic dysfunction.


There are many questions remaining to be answered about this treatment approach, including the following:

1. For which PWCs would this be an appropriate treatment approach?
2. For what fraction of the entire PWC population will this treatment approach be beneficial?
3. How can PWCs who are likely to experience adverse effects from this treatment approach be identified beforehand, so that these effects can be avoided?
4. Are there PWCs who are too debilitated to be able to tolerate the detoxing and die-off processes that result from this treatment approach, and if so, will the full Yasko treatment approach be suitable for them?
5. Will the simplified treatment approach actually lead to continuing improvements over longer times for those who find it beneficial, all the way to cured cases?
6. Will the simplified treatment approach be effective in cases of "pure fibromyalgia" as it appears to be in many cases of CFS?
7. How can this treatment approach be further improved?

And many more.

However, the results to date seem encouraging. I suspect that many PWCs can be helped by this treatment approach or something similar to it. I also believe that the appearance of improvement in such a wide range of CFS symptoms when this treatment approach is used provides evidence that a block in the methylation cycle does in fact lie at the root of the biochemical and physiological derangements found in many PWCs, or very near to it. The wide range of symptoms that appear to be associated with die-off and detox appear to give evidence that this treatment is in fact stimulating more normal operation of the immune and detox systems.

I want to reiterate what I wrote near the beginning of this article: This treatment approach must be entered upon only under the supervision of a licensed physician, to make sure that if there are individual issues that arise, they can be taken care of immediately. The treatment approach itself consists only of nonprescription supplements that are normally found naturally in the body and are necessary for normal biochemistry to take place. It would thus appear to be fairly benign on its surface. However, it must be pointed out that restarting the methylation cycle after it has been blocked for extended periods, particularly in those PWCs whose general health has become quite debilitated, or those who have certain respiratory, cardiac, endocrine or autoimmune conditions, can present some serious challenges. I believe that there is still much more to be learned about the possible hazards of applying this treatment approach to the very heterogeneous CFS population, and this work properly lies in the province of clinicians. I am not a licensed physician, but a researcher. I believe that I have carried this work as far as a researcher can appropriately carry it. I am hopeful that clinicians will further test this treatment approach in order to learn how it may be safely, effectively, and practically utilized to treat PWCs, and it appears that this is now beginning to occur.

I also hope that physicians or their patients who decide to try this treatment approach will let me know how it works for them, though I may not be able to answer all the emails I receive, as their volume is growing.


Rich Van Konynenburg, Ph.D.
Independent Researcher and Consultant
richvank@aol.com
 

richvank

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Documents by Rich Van Konynenburg Part 7

7.
richvank
12/13/08 11:48 AM Simpler explanation of GD-MCB hypothesis for CFS

1. To get an isolated case of CFS (I'm not talking here about the epidemics or clusters), you have to have inherited some genetic variations from your parents. These are called polymorphisms or single-nucleotide polymorphisms. We know what some of the important ones are, but we don't know all of them yet. This is a topic that needs more research.

2. You also have to have some things happen in your life that place demands on your supply of glutathione. Glutathione is like a very small protein, and there is some in every cell of your body, and in your blood. It protects your body from quite a few things that can cause problems, including chemicals that are toxic, and oxidizing free radicals. It also helps the immune system to fight bugs (bacteria, viruses, fungi) so that you are protected from infections by them.

3. Oxidizing free radicals are molecules that have an odd number of electrons, and are very chemically reactive. They are normally formed as part of the metabolism in the body, but if they rise to high levels and are not eliminated by glutathione and the rest of the antioxidant system, they will react with things they shouldn't, and cause problems. This situation is called oxidative stress, and it is probably the best-proven biochemical aspect of chronic fatigue syndrome.

4. There are a variety of things in your life that can place demands on your glutathione. These include physical injuries or surgery to your body, exposure to toxic chemicals such as pesticides, solvents, or heavy metals like mercury, arsenic or lead, exposure to infectious agents or vaccinations, or emotional stress that causes secretion of a lot of cortisol and adrenaline, especially if it continues over a long time. Just about anything that "stresses" your body or your mind will place a demand on glutathione. All people experience a variety of stressors all the time, and a healthy person's body is able to keep up with the demands for glutathione by recycling used glutathione molecules and by making new ones as needed. However, if a person's body cannot keep up, either because of extra-high demands or inherited genetic polymorphisms that interfere with recycling or making glutathione, or both, the levels of glutathione in the cells can go too low. When glutathione is properly measured in most people with CFS (such as in the Health Diagnostics and Research Institute methylation pathways panel), it is found to be below normal.

5. One of the jobs that glutathione normally does is to protect your supply of vitamin B12 from reacting with toxins. Vitamin B12 is very reactive chemically. If it reacts with toxins, it can't be used for its important jobs in your body. A routine blood test for vitamin B12 will not reveal this problem. In fact, many people with CFS appear to have elevated levels of B12 in their blood, while their bodies are not able to use it properly. The best test to reveal this is a urine organic acids test that includes methylmalonic acid. It will be high if the B12 is being sidetracked, and this is commonly seen in people with CFS.

6. When your glutathione level goes too low, your B12 becomes naked and vulnerable, and is hijacked by toxins. Also, the levels of toxins rise in the body when there isn't enough glutathione to take them out, so there are two unfortunate things that work together to sabotage your B12 when glutathione goes too low.

7. The most important job that B12 has in the body is to form methylcobalamin, which is one of the two active forms of B12. This form is needed by the enzyme methionine synthase, to do its job. An enzyme is a substance that catalyzes, or encourages, a certain biochemical reaction.

8. When there isn't enough methylcobalamin, methionine synthase has to slow down its reaction. Its reaction lies at the junction of the methylation cycle and the folate cycle, so when this reaction slows down, it affects both these cycles.

9. The methylation cycle is found in all the cells of the body (not counting the red blood cells, which are unusual in a lot of ways). The methylation cycle has some important jobs to do. First, it acts as a little factory to supply methyl (CH3) groups to a large number of reactions in the body. Some of these reactions make things like creatine, carnitine, coenzyme Q10, phosphatidylcholine, melatonin, adrenaline, and lots of other important substances for the body. It is not a coincidence that these substances are found to be low in CFS, so that people try taking them as supplements. Not enough of them is being made because of the partial block in the methylation cycle. The methylation cycle also supplies methyl groups to be attached to DNA molecules, and this helps to determine whether the blueprints in the DNA will be used to make certain proteins according to their patterns. The "reading" of DNA is referred to as "gene expression." Methyl groups prevent or "silence" gene expression. Overexpression of genes has been observed in CFS patients, and I suspect this is at least partly due to lack of sufficient methylation to silence gene expression.

10. Another thing that the methylation cycle does is to regulate the overall use of sulfur in the body. Sulfur comes in from the diet in the form of amino acids in protein (methionine and cysteine) and as taurine and some as sulfate. The methylation cycle regulates the production of the various substances that contain sulfur that are needed by the body. The levels of various sulfur metabolites are often found to be abnormal in people with CFS.

11. One of the most important sulfur-containing substances in the body is glutathione, so now you can see how this is starting to look like a dog chasing its tail! The thing that causes chronic fatigue syndrome to be chronic, and keeps people ill for years and years, is this interaction between glutathione, vitamin B12, and the methylation cycle. When glutathione goes too low, the effect on vitamin B12 slows down the methylation cycle too much. The sulfur metabolites are then dumped into the transsulfuration pathway (which is connected to the methylation cycle) too much, are oxidized to form cystine, pass through hydrogen sulfide and sulfite, and are eventually converted to taurine, thiosulfate and sulfate and are excreted in the urine. This lowers the production of glutathione, which requires cysteine rather than cystine, and now there is a vicious circle mechanism that preserves this malfunction and keeps you sick.

12. That's the basic biochemical mechanism of CFS. I believe that everything else flows from this. As you know, there are many symptoms in CFS. I won't discuss all of them in detail here, but here's how I believe the fatigue occurs: The cells have little powerplants in them, called mitochondria. Their job is to use food as fuel to produce ATP (adenosine triphosphate). ATP acts as a source of energy to drive a very large number of reactions in the cells. For examples, it drives the contraction of the muscle fibers, and it provides the energy to send nerve impulses. It also supplies the energy to make stomach acid and digestive enzymes to digest our food, and many, many other things.

When glutathione goes too low in the muscle cells, the levels of oxidizing free radicals rise, and these react with parts of the "machinery" in the little powerplants, lowering their output of ATP. This involves what is called the Krebs cycle and the respiratory chain. So the muscle cells then experience an energy crisis, and that's what causes the fatigue. Over time, because of the lack of enough glutathione, more problems accumulate in the mitochondria, including toxins, viral DNA, and mineral imbalances. These have been observed in the ATP Profiles and Translocator Protein test panels offered by Acumen Lab in the UK.

13. There are explanations that flow from this basic mechanism for other aspects of CFS. I haven't figured out explanations for all of the aspects of CFS, but I do think I understand a large number of them in some detail, and I've been able to explain enough of them that I believe this mechanism will account for the rest as well, if we can figure out the underlying biochemistry. My 2007 IACFS conference poster paper presented outlines of many of these explanations.

14. The involvement of infections by bacteria, viruses and fungi appears to have two aspects in CFS. First, as mentioned above, infectious agents can act as one of the stressors that initially bring down the level of glutathione and produce the onset of isolated cases of CFS in people who are genetically susceptible. I suspect that the clusters or epidemic occurrences of CFS (such as at Incline Village in the mid-80s) were caused by particularly virulent infectious agents, such as powerful viruses, and the genetic factor is less important in these cases.

15. Second, when a person's glutathione, methylation cycle, and folate cycle are not operating normally because of the vicious circle described above, the immune system does not function properly. In this case, viruses and bacteria that reside inside our cells and that are always in the body in their dormant, resting states are able to reactivate and produce infections, which the immune system is not able to totally put down. This accounts for the observation that most of the viral and intracellular bacterial infections seen in CFS patients are caused by pathogens that most of the population is carrying around in their dormant states.

16. Third, when the immune system's defenses are down, a person can catch new infections from others or from the environment, and the immune system is not able to defeat them, so they accumulate over time. Dr. Garth Nicolson has found that the longer a person has been ill, the more infections they have, on the average.

17. Other things that accumulate over time are various types of toxins, because the detox system depends to a large extent on the sulfur metabolism, and it will not be operating properly as long as the person has CFS. The body stores much of these toxins in fat, but as the levels get higher, they begin cause problems throughout the biochemistry of the cells. Many people with CFS have been tested for toxins (most commonly the heavy metal toxins, which are the most easily tested) and they are commonly found to be elevated.

18. The longer a person is chronically ill with CFS, the more toxins and infections accumulate in their body, and the more symptoms they experience. This explains why the disorder changes over time, and why some people become extremely debilitated after being ill for many years.

19. The main key to turning this process around is to help the methionine synthase enzyme to operate more normally, so that the partial block in the methylation cycle and the folate cycle are lifted, and glutathione is brought back up to normal. That is what the simplified treatment approach is designed to do, and so far, the evidence is that it does do these things in most people who have CFS. I recommend that people with CFS have the Health Diagnostics methylation pathways panel run to find out if they do in fact have a partial methylation cycle block and glutathione depletion before deciding, with their doctors, whether to try this treatment. This also provides a baseline so that progress can be judged later on by repeating it every few months during the treatment. Symptoms may not be a good guide to judge progress during treatment, because detoxing and die-off can make the symptoms worse, while in fact they are exactly what is needed to move the person toward recovery.

20. The main question I'm working on now is what else needs to be done to bring people to recovery? I don't have complete answers to this question yet. Many people may recover from this treatment alone, but it is proving to be a slow process, and we will need more time to see how this will work out. It does appear that people who suffer from illness due to toxic molds do need to remove themselves from environments where these are present. The small amount of evidence I have so far suggests that people who have Lyme disease will need to have that treated in addition. I'm not sure about certain viral infections. They may also need to be treated. If there are large amounts of toxic heavy metals such as mercury in the body, these can block enzymes and keep the methylation cycle from returning to normal, so these metals may first have to be removed by careful chelation treatment. We still have a lot to learn, but I'm convinced that the mechanism I have described above is the core of the abnormal biochemistry in CFS, and correcting it needs to be a cornerstone of the treatment.

I hope this is helpful.

Rich Van Konynenburg



8. Since the graph and figures from the treatment study paper are not accepted by the Wiki software, it would be best to go to this link in Australia to see the full paper:

http://www.mecfs-vic.org.au/sites/w...Article-2009VanKonynenburg-TrtMethylStudy.pdf



9. Is There a Link between Lyme Disease and Chronic Fatigue Syndrome?

by

Richard A. Van Konynenburg, Ph.D.

9th International IACFS/ME Conference
Reno, Nevada
March 12-15, 2009

Introduction and Background

There are currently two prominent case definitions for chronic fatigue syndrome (CFS): the international research case definition of 1994, sponsored by the Centers for Disease Control and Prevention (CDC) [1], and the Canadian myalgic encephalomyelitis/chronic fatigue syndrome clinical working case definition of 2003 [2], which is intended to be used in clinical diagnosis.

The diagnosis of chronic fatigue syndrome is not always clear-cut when either of these definitions is used, because there is no accepted diagnostic test. Rather, the diagnosis is made on the basis of clinical judgment as to whether the specified symptom-based criteria are satisfied, after the exclusion of other known disorders that could account for the symptoms. Active Lyme disease is specified as one of the exclusionary disorders in both these case definitions for CFS. However, there is considerable overlap between the symptoms of CFS and those experienced by patients with Lyme disease. According to the guidelines of the International Lyme and Associated Diseases Society, The clinical features of chronic Lyme disease can be indistinguishable from fibromyalgia and chronic fatigue syndrome [3].

The diagnosis of Lyme disease is not always clear-cut, either, and the appropriate diagnostic criteria for it continue to be a subject of controversy. On the one hand, there are the criteria recommended by the Centers for Disease Control and Prevention (CDC) [4], which are in agreement with a set of guidelines established by the Infectious Disease Society of America (IDSA) [5], and on the other hand, there is the set of criteria recommended by the International Lyme and Associated Diseases Society (ILADS) [3]. In some cases the onset of Lyme disease is accompanied by a characteristic rash (erythema migrans), and there is general agreement that when it is present, it establishes the diagnosis. History of having a tick bite is also an important factor in diagnosis. However, the rash does not occur in all the cases (The ILADS estimates less than 50%, while the IDSA offers a higher estimate), and many patients with Lyme disease do not recall having had a tick bite. When the rash and memory of a tick bite are not present and Lyme disease is suspected, serological testing is performed. Unfortunately, the available tests lack sensitivity, and there is also disagreement between these guidelines over which tests and which criteria for interpreting them should be used.

This difficulty in differential diagnosis has resulted in the situation that many patients who were initially diagnosed as having CFS have later (in many cases several years later) been found by serological testing to have Lyme disease. This is regrettable, because unrecognized and untreated Lyme disease can be progressive and can have very serious consequences.

In addition, in cases in which Lyme disease has been recognized and treated, some of the patients have continued to experience symptoms. There is a disagreement within the medical community as to whether these patients continue to be infected with Borrelia burgdorferi (Bb), the bacteria that causes Lyme disease, and/or with one or more of the tick-borne coinfections, and thus are suffering from chronic Lyme disease [3], or whether the bacteria have been eradicated, and the patients are therefore suffering from post-Lyme disease syndrome [5].

Two years ago the present author proposed a hypothesis for the etiology and pathogenesis of CFS, called the Glutathione DepletionMethylation Cycle Block (GD-MCB) hypothesis [6]. This hypothesis has been found to be consistent with the results of a clinical study of a treatment based upon it [7]. The GD-MCB hypothesis proposes that a variety of stressors that place demands on glutathione can bring about the onset of CFS in genomically predisposed individuals.

The present paper elaborates the GD-MCB hypothesis by describing a specific biochemical link between Lyme disease and CFS, such that patients who are genomically predisposed to developing CFS can and do progress into CFS when they have contracted Lyme disease. They thus suffer from Lyme disease and CFS simultaneously (in spite of the artificial exclusion of active Lyme disease in the case definitions for CFS). If they are successfully treated for Lyme disease, this hypothesis holds that a significant fraction of them can and do continue to suffer from CFS, which must also be specifically treated. Another paper at this conference describes a clinical study of a treatment for CFS that appears to be promising [7].

Summary of the CDC-sponsored international research case definition for chronic fatigue syndrome [1]

This definition excludes other known conditions that could account for the symptoms, and then defines a case of CFS as involving the presence of the following:
1) clinically evaluated, unexplained, persistent or relapsing chronic fatigue that is of new or definite onset (has not been lifelong); is not the result of ongoing exertion, is not substantially alleviated by rest; and results in substantial reduction in previous levels of occupational, educational, social or personal activities; and 2) the concurrent occurrence of four or more of the following symptoms, all of which must have persisted or recurred during 6 or more consecutive months of illness and must not have predated the fatigue: self-reported impairment in short-term memory or concentration severe enough to cause substantial reduction in previous levels of occupational, educational, social or personal activities; sore throat; tender cervical or axillary lymph nodes; muscle pain; multijoint pain without joint swelling or redness; headaches of a new type, pattern or severity; unrefreshing sleep; and postexertional malaise lasting more than 24 hours.
Having had Lyme disease that was treated with definitive therapy before development of chronic symptomatic sequelae does not exclude a patient from the diagnosis of CFS under this definition.

Summary of the Canadian ME/CFS clinical working case definition [2]

This definition specifies that a patient with ME/CFS will meet criteria for fatigue, post-exertional malaise and/or fatigue, sleep dysfunction, and pain; will have two or more neurological/cognitive manifestations and at least one symptom from two of the categories of autonomic, neuroendocrine and immune manifestations. In addition, the illness must have persisted for at least six months.

Symptoms in the various categories are delineated in detail in the definition. In this definition, active Lyme disease is listed among the infectious diseases to be excluded during diagnosis, but the definition also states, If the potentially confounding medical condition is under control, then the diagnosis of ME/CFS can be entertained if the patient meets the criteria otherwise.

Summary of the IDSA Guidelines for diagnosis of Lyme disease [5]

If erythema migrans rash is present, clinical diagnosis of Lyme disease can be made without laboratory confirmation. If not, evidence from laboratory testing is required.

These guidelines specify two-tier testing: First, a polyvalent enzyme-linked immunosorbent assay (ELISA) is to be performed. If the ELISA is positive or equivocal, it is to be followed with IgM and IgG western blots as specified by the CDC [4]. These are considered positive if 5 out of 10 IgG bands or 2 out of 3 IgM bands are positive.

Summary of the IDSA proposed definition for post-Lyme disease syndrome [5]

According to the IDSA, in order for a case to be diagnosed as post Lyme disease syndrome, there must have been a documented episode of early or late Lyme disease, using the above criteria, and there must have been a generally accepted treatment regimen that resolved or stabilized the objective manifestations of Lyme disease. In addition, there must have been onset of any of the following symptoms within 6 months of the diagnosis of Lyme disease, and persistence of continuous or relapsing symptoms for at least a 6-month period after completion of antibiotic therapy:

Fatigue
Widespread musculoskeletal pain
Complaints of cognitive difficulties

These symptoms must be of such severity that, when present, they result in substantial reduction of occupational, educational, social or personal activities.

There are a number of exclusions in this proposed definition, among them being a diagnosis of fibromyalgia or chronic fatigue syndrome before the onset of Lyme disease.

Summary of the ILADS guidelines for diagnosis of Lyme disease [3]

The position of the ILADS on diagnosis of Lyme disease is different from that of the IDSA.

The ILADS maintains that Lyme disease is a clinical diagnosis, which includes a consideration of symptoms, and tests should be used to support rather than supersede the physicians judgment. Burrascano, an ILADS board member, has presented a list of 60 symptoms found in Lyme disease [8].

Erythema migrans rash is diagnostic, but is absent in over 50% of cases.

Diagnosis of Lyme disease by the two-tier confirmation fails to detect up to 90% of cases.

Sensitivity and specificity for both the IgM and IgG western blots range from 92 to 96% when only two specific bands are positive.

Overlap in symptoms between Lyme disease (including chronic Lyme disease and post-Lyme disease syndrome) and CFS

A comparison of Burrascanos symptoms list for Lyme disease [8] with the discussion of symptoms in the Canadian criteria for CFS [2] reveals that these two disorders have a large number of symptoms in common, and very few if any that are specific to one or the other of these disorders. Similarly, a comparison of the IDSA proposed definition for post-Lyme disease syndrome [5] and the Canadian criteria for CFS [2] shows that the symptoms specified in the former are also prominently found in the latter.

Etiology of Lyme disease

It is well-established that the Borrelia burgdorferi bacterium is responsible for causing Lyme disease [9], and that there are several other tick-borne diseases that can be present with Lyme disease as coinfections [5,8].

Etiology of CFS, and the Glutathione DepletionMethylation Cycle Block (GD-MCB) hypothesis for CFS

The etiology of CFS is not agreed upon. As noted above, the present author has proposed a hypothesis for CFS called the Glutathione DepletionMethylation Cycle Block hypothesis [6], which proposes that the etiology of CFS consists of genetic predisposition combined with the effects of some combination of a variety of stressors (physical, chemical, biological and/or psychological/emotional) that lead to the depletion of glutathione, which in turn causes a partial block in the methylation cycle. A updated review of the GD-MCB hypothesis follows:

An individual inherits a genomic predisposition (polymorphisms in several of certain genes) toward developing CFS. (This genomic factor is more important for the sporadic cases than for the cluster cases of CFS.)

The person then experiences some combination of a variety of possible stressors (physical, chemical, biological, and/or psychological/emotional) that place demands on glutathione. [As will be discussed later, this is the point at which Lyme disease can come into this pathogensis.]

Glutathione levels drop, producing oxidative stress, removing protection from cobalamin (vitamin B12) and allowing toxins to accumulate.

Toxins react with cobalamin, lowering the rate of formation of methylcobalamin.

Lack of sufficient methylcobalamin inhibits the activity of methionine synthase, placing a partial block in the methylation and folate cycles.

Sulfur metabolites drain excessively through the transsulfuration pathway to form cysteine.

Much of the cysteine is oxidized to cystine because of the state of high oxidative stress, and is therefore not available for the synthesis of glutathione. An alternative pathway initiated by cystathionine gamma lyase diverts the cystine into formation of hydrogen sulfide and thiosulfate, and the latter is excreted in the urine.

An interaction (vicious circle) is established between the partial block in the methylation cycle and the depletion of glutathione, and this is what causes the disorder to become chronic.

A wide range of symptoms results from these chronic abnormalities in the basic biochemistry of the cells.

The dysfunction of the detoxication system and the immune system that results from this vicious circle mechanism allows toxins and infections to accumulate over time, which increasingly produce effects of their own.

Treatment should be directed primarily at increasing the activity of methionine synthase. The resulting normalization of the methylation cycle, the folate metabolism and glutathione levels will restore function to the immune system and the detoxication system as well as to a wide range of other parts of the overall biochemistry.

It can be expected that die-off of pathogens and mobilization of stored toxins will initially produce some exacerbation of symptoms, but improvements will be experienced as the body burdens of toxins and active infections are decreased.


Included among the biological stressors that place demands on glutathione are infections, such as that produced by Borrelia burgdorferi. In other words, the possibility that Lyme disease could lead to CFS was part of the GD-MCB hypothesis as proposed. The biochemical mechanism of the proposed link between Lyme disease and CFS is elaborated in more detail below.

Hypothesis for a link between Lyme disease and CFS

The present author proposes that Lyme disease can lead to CFS in individuals who are genomically predisposed to developing glutathione depletion and a partial block in the methylation cycle under the influence of stressors. This occurs because the Borrelia burgdorferi bacterium depletes glutathione in its hosts. In such cases, Lyme disease and CFS exist together as comorbid conditions, so that CFS is a component of what has been called chronic Lyme disease. If the Lyme disease is successfully treated, the CFS continues to be present chronically unless specifically and effectively treated, because of the ongoing vicious circle interaction between glutathione depletion and the partial methylation cycle block. The resulting condition then constitutes what has been called post-Lyme disease syndrome, which falls into the category of the post-infective fatigue syndromes.

Evidence in support of this hypothesis

Sambri and Cevenini [10] found in culture experiments that Borrelia burgdorferi (Bb) requires that cysteine be supplied exogenously, and is not able to make use of either methionine or cystine as a cysteine source. They also found that cysteine diffuses passively into Bb, i.e. there is no active transporter protein. This requirement of Bb for exogenous cysteine is important, because it means that Bb must take cysteine from its host. Cysteine is the rate-limiting amino acid for the synthesis of glutathione in human cells, and if it becomes depleted, this synthesis will be inhibited [11].

It has been found that Bb uses cysteine in the synthesis of several of its essential proteins: outer surface protein A (OspA), outer surface protein B (OspB), coenzyme A, a hemolysin and others [10,12]. Bb does not use glutathione for its control of its redox potential, as do human cells. Instead, it uses reduced coenzyme A (CoASH) [13].

Pancewicz et al. have found that Bb does in fact lower the cysteine and glutathione levels in its human host, and also inhibits the activity of glutathione peroxidase [14]. Because glutathione peroxidase, with the help of glutathione, normally converts hydrogen peroxide to water, thus eliminating its contribution to oxidative stress, low glutathione and low activity of glutathione peroxidase will allow a rise in hydrogen peroxide concentration and a rise in oxidative stress [15].

Although Bb appears to be more resistant than other bacterial pathogens to reactive oxygen species, it does incorporate unsaturated fatty acids in its membranes, and these are vulnerable to oxidative attack [16]. It has been observed that elevation of hydrogen peroxide causes Bb to assume its cyst form [17], in which it is less vulnerable to environmental threats [18], including antibiotics [19]. Perhaps this self-actuated mechanism serves to promote the survival of Bb in its host.

It is known that the immune system is dysfunctional in CFS, and the GD-MCB hypothesis [6] suggests that this results from glutathione depletion and disruption of the folate metabolism. Glutathione is particularly important for the function of the T lymphocytes [20], and folate is needed in the synthesis of DNA and RNA, necessary for the proliferation of T cells [21]. Thus, the biochemical mechanism suggested in the GD-MCB hypothesis can be expected to have a deleterious effect on the cell-mediated (Th1) immune response, which is needed to counter intracellular pathogens. Bb has been found to be able to reside intracellularly [18], and it has been shown that Th1 types of responses are required for optimum eradication of Bb [22]. Therefore, this immune dysfunction may help Bb to continue to survive in the body of the host, which is relevant to chronic Lyme disease.

The major overlap in symptoms between CFS on the one hand, and both chronic Lyme disease and post-Lyme disease syndrome on the other, as described earlier, is also evidence that supports this hypothesis.
In this regard, a study was performed by Gaudino et al. [23] that compared a group of patients judged to have post-Lyme disease syndrome (though the authors acknowledged that the possibility of ongoing infections could not be ruled out) with a group who met the research case definition for CFS [1] but did not have histories suggestive of Lyme disease. The authors found that both groups experienced severe fatigue, myalgia, headaches, and perceived cognitive problems. Eighty-four percent of the post-Lyme patients also met the research case definition for CFS. They did not find significant differences between the two groups in terms of psychiatric illness.

Despite the overlap in symptoms, they did find that some symptoms distinguished the two groups. Fever, sore throat, tender lymph nodes and unrefreshing sleep were found to be significantly more common among the patients with CFS. They also found that post-Lyme patients showed more global cognitive impairment.

It should be noted that the CFS research case definition [1] described earlier, which was used for patient selection in this study, specifically lists sore throat, tender lymph nodes and unrefreshing sleep among eight symptoms, four of which must be present to diagnose CFS. The more recent Canadian diagnostic case definition for ME/CFS [2] specifies a broader definition for sleep dysfunction and combines sore throat and tender lymph nodes together under immune manifestations. The immune manifestations are then grouped together with two other categories of symptoms, and the definition requires only that at least one symptom from two of these three categories must be present. Since there are 21 symptoms listed in these three categories, it is likely that patients in a group selected using the Canadian criteria for CFS would be less likely to exhibit sore throat, tender lymph nodes and unrefreshing sleep than a group selected using the CFS research case definition. In view of this, the differences found in this study between these symptoms in post-Lyme disease syndrome and CFS do not appear to be very robust. In addition, while this study found little cognitive deficit in the CFS patients, an earlier study in CFS reported poor performance on reaction time and attention [24], in disagreement with this study. It therefore appears that CFS and post-Lyme disease syndrome are essentially indistinguishable on the basis of comparison of symptoms.

Implications for the debate concerning chronic Lyme disease vs. post-Lyme disease syndrome

In view of the hypothesized link between Lyme disease and CFS, it seems possible that either chronic Lyme disease or post-Lyme syndrome could be present in a given case that began with Lyme disease and progressed into CFS, depending on whether or not Borrelia burgdorferi had subsequently been eradicated. If Bb were still present, the condition would properly be called chronic Lyme disease. If Bb had been eradicated, the patient would still have CFS, which would persist because of the vicious circle mechanism described in the GD-MCB hypothesis. Therefore, the patient would have post-Lyme disease syndrome, which is a post-infective fatigue syndrome, a recognized category within CFS [25].

Testing this hypothesis

This hypothesis can readily be tested by means of the commercially available methylation pathways panel [26], which is increasingly being used in CFS and autism. This panel measures metabolites in the methylation cycle and the folate metabolism, as well as the reduced and oxidized forms of glutathione, and will reveal whether glutathione depletion and/or a partial block in the methylation cycle are present. This panel could be used on patients believed to have either chronic Lyme disease or post-Lyme disease syndrome, to find out whether this hypothesis is valid for these patients.

Implications for treatment

If this hypothesis is valid, it suggests that treatment of chronic Lyme disease or post-Lyme disease syndrome should include treatment to lift the partial methylation cycle block. Such treatment of patients with combined diagnoses of chronic fatigue syndrome and fibromyalgia has been subjected to a clinical research study, and the results are reported in another paper at this Conference [7].


Summary

A link has been hypothesized between Lyme disease and chronic fatigue syndrome (CFS). This link is based on the Glutathione DepletionMethylation Cycle Block (GD-MCB) hypothesis for CFS [6]. The GD-MCB hypothesis proposes that in a person who is genomically predisposed, stressors that place demands on glutathione can cause it to become depleted, and can lead to a partial block in the methylation cycle. The resulting vicious circle interaction maintains CFS as a chronic condition. The present paper suggests that Lyme disease is one of the stressors that can produce this vicious circle interaction in the body of a person who is genomically predisposed. It is suggested that this leads to chronic Lyme disease. If the Borrelia bacteria are subsequently eliminated by treatment, the patient then has post-Lyme disease syndrome. Post-Lyme disease syndrome is one of the post-infective fatigue syndromes, a category of disorders within chronic fatigue syndrome [25]. A commercial test panel is available to test this hypothesis [26], and treatment to lift the methylation cycle block and to restore glutathione is available [7] if these are found to be present.

References

1. Fukuda, K., Straus, S.E., Hickie, I., Sharpe, M.C., Dobbins, J.G., Komaroff, A., and the International Chronic Fatigue Syndrome Study Group, The chronic fatigue syndrome: a comprehensive approach to its definition and study, Ann. Intern. Med. (1994); 121: 953-959.

2. Carruthers, B.M., Jain, A.K., De Meirleir, K.L., Peterson, D.L., Klimas, N.G., Lerner, A.M., et al., Myalgic encephalomyelitis/chronic fatigue syndrome: clinical working case definition, diagnostic and treatment protocols, J. Chronic Fatigue Syndrome (2003); 11(1): 7-115.

3. The International Lyme and Associated Diseases Society, Evidence based guidelines for the management of Lyme disease, Expert Rev. Antiinfect. Ther. (2004); 2 (1 Suppl): S1-S13, and http://www.ilads.org/guidelines_ilads.html.

4. Centers for Disease Control and Prevention, Recommendations for test performance and interpretation from the Second National Conference of Serological Diagnosis of Lyme disease, Morb. Mortal. Wkly Rept. (1995); 44: 590-591, and http://www.cdc.gov/ncidod/dvbid/Lyme/ld_humandisease_diagnosis.htm

5. Wormser, G.P., Dattwyler, R.J., Shapiro, E.D., Halperin, J.J., Steere, A.C., Klempner, M.S., et al., The clinical assessment, treatment, and prevention of Lyme disease, human granulocytic anaplasmosis, and babesiosis: clinical practice guidelines by the Infectious Diseases Society of America, Clin. Infect. Diseases (2006); 43: 1089-1134, available at
http://www.journals.uchicago.edu/doi/pdf/10.1086/508667?cookieSet=1

6. Van Konynenburg, R.A., Glutathione DepletionMethylation Cycle Block, A Hypothesis for the Pathogenesis of Chronic Fatigue Syndrome, poster paper, 8th Intl. IACFS Conf. on CFS, Fibromyalgia, and Other Related Illnesses, Fort Lauderdale, FL, January 10-14, 2007
http://phoenix-cfs.org/GSHMethylationVanKonynenburg.htm

7. Nathan, N., and Van Konynenburg, R.A., Treatment study of methylation cycle support in patients with chronic fatigue syndrome and fibromyalgia, poster paper, this Conference.

8. Burrascano, J.J., Jr., Advanced topics in Lyme disease, diagnostic hints and treatment guidelines for Lyme and other tick borne illnesses, Sixteenth edition, (October, 2008).

9. Burgdorfer, W.A., Barbour, S., Hayes, J.. Benach, E., Grunwaldt, E., and Davis, J.P., Lyme disease: a tick-borne spirochetosis, Science (1982); 216: 1317-1319.

10. Sambri, V., and Cevenini, R., Incorporation of cysteine by Borrelia burgdorferi and Borrelia hersii, Can. J. Microbiol. (1992); 38: 1016-1021.

11. Griffith, O.W., Biologic and pharmacologic regulation of mammalian glutathione synthesis, Free Radic Biol Med. (1999 Nov); 27(9-10): 922-35.

12. Williams, L.R., and Austin, F.E., Hemolytic activity of Borrelia burgdorferi, Infection and Immunity (1992); 60(8): 3224-3230.

13. Boylan, J.A., Hummel, C.S., Benoit, S., Garcia-Lara, J., Treglown-Downey, J., Crane, E.J., III, and Gherardini, F.C., Borrelia burgdorferia bb0728 encodes a coenzyme A disulphide reductase whose function suggests a role in intracellular redox and the oxidative stress response, Molecular Microbiol. (2006); 59(2), 475-486.

14. Pancewicz, S.A., Skrzydleweska, E., Hermanowska-Szpakowicz, T., Zajkowska, J., and Kondrusik, M., Role of reactive oxygen species (ROS) in patients with erythema migrans, an early manifestation of Lyme borreliosis, Med. Sci. Monit. (2001); 7(6), 1230-1235.

15. Levine, S.A., and Kidd, P.M., Antioxidant Adaptation, Its Role in Free Radical Pathology, Allergy Research Group, San Leandro, CA (1985).

16. Boylan, J.A., Lawrence, K.A., Downey, J.S., and Gherardini, F.C., Borrelia burgdorferi membranes are the primary targets of reactive oxygen species, Molec. Microbiol. (2008); 68(3): 786-799.

17. Murgia, R., and Cinco, M., Induction of cystic forms by different stress conditions in Borrelia burgdorferi, APMIS (2004); 112, 57-62.

18. Miklossy, J., Kasas, S., Zurn, A.D., McCall, S., Yu, S., and McGeer, P.L., Persisting atypical and cystic forms of Borrelia burgdorferi and local inflammation in Lyme neuroborreliosis, J. Neuroinflamm. (2008); 5: 40, doi:10.1186/1742-2094-5-40.

19. Kersten, A., Poitschek, C., Rauch, S., and Aberer, E., Effects of penicillin, ceftriaxone and doxycycline on morphology of Borrelia burgdorferi, Antimicrob. Agents Chemother. (1995); 39(5), 1127-1133.

20. Droge, W., and Breitkreutz, R., Glutathione and immune function, Proc. Nutr. Soc. (2000); 59: 595-600.

21. Dhur, A. Galan, P. and Hercberg, S., Folate status and the immune system, Prog. Food Nutr. Sci. (1991); 15 (1-2): 43-60.

22. Ekerfelt, C., Andersson, M., Olausson, A., Bergstrom, S., and Hultman, P., Mercury exposure as a model for deviation of cytokine responses in experimental Lyme arthritis: HgCl2 treatment decreases T helper cell type 1-like responses and arthritis severity but delays eradication of Borrelia burgdorferi in C3H/HeN mice, Clin. Exper. Immunol. (2007); 150: 189-197.

23. Gaudino, E.A., Coyle, P.K., and Krupp, L.B., Post-Lyme syndrome and chronic fatigue syndrome, Arch. Neurol. (1997); 54: 1372-1376.

24. DeLuca, J., Johnson, S.K., and Natelson, B.H., Information processing efficiency in chronic fatigue syndrome and multiple sclerosis, Arch. Neurol. (1993); 50: 301-304.

25. Hickie, I. Davenport, T., Wakefield, D, Vollmer-Conna, U., Cameron, B., Vernon, S.D., Reeves, W.C., Lloyd, A., Dubbo Infection Outcomes Study Group, Post-infective and chronic fatigue syndromes precipitated by viral and non-viral pathogens: prospective cohort study, BMJ (2006 Sep 16); 333(7568): 575. Epub 2006 Sep 1.

26. The methylation pathways panel is available in the U.S. from Vitamin Diagnostics, Inc., Cliffwood Beach, NJ (phone: (732- 583-7773) and in Europe from the European Laboratory of Nutrients in the Netherlands.




10. Contact Information for Ordering the Methylation Pathways Panel

This panel will indicate whether a person has a partial methylation cycle block and/or glutathione depletion. I recommend that this panel be run before deciding whether to consider treatment for lifting the methylation cycle block. I am not associated with the labs that offers this panel.

The panel requires an order from a physician or a chiropractor. The best way to order the panel is by fax, on a clinicians letterhead.

This panel is available from the European Laboratory of Nutrients in the Netherlands. This lab serves international clients, including those from Australia.

In the U.S., the panel is available from--


Health Diagnostics and Research Institute
540 Bordentown Avenue, Suite 2300
South Amboy, NJ 08879
USA
Phone: (732) 721-1234
Fax: (732) 525-3288

Lab Director: Elizabeth Valentine, M.D.

Dr. Tapan Audhya, Ph.D., is willing to help clinicians with interpretation of the panel by phone.


Rich Van Konynenburg, Ph.D.
Independent Researcher and Consultant




11.

May 19, 2011


Interpretation of Results of the Methylation Pathways Panel

by
Richard A. Van Konynenburg, Ph.D.
Independent Researcher
(richvank@aol.com)


Disclaimer: The Methylation Pathways Panel is offered by the European Laboratory of Nutrients in the Netherlands and the Health Diagnostics and Research Institute in New Jersey, USA. I am not affiliated with these laboratories, but have been a user of this panel, and have written these suggestions at the request of Tapan Audhya, Ph.D., Director of Research for the Health Diagnostics lab, for the benefit of physicians who may not be familiar with this panel. My suggestions for the interpretation of results of the panel are based on my study of the biochemistry involved, on my own experience with interpreting panel results as part of the analysis of a fairly large number of cases of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) over the past four years, and on discussion of some of the issues with Dr. Audhya. I am a researcher, not a licensed physician. Treatment decisions based on the results of applying this panel and its interpretation to individual cases are the responsibility of the treating physician.

Application: In addition to being useful in analyzing cases of ME/CFS, this panel can also be usefully applied to cases of autism and other disorders that involve abnormalities in glutathione, methylation and the folate metabolism.

The panel includes measurement of two forms of glutathione (reduced and oxidized), S-adenosylmethionine (SAMe), S-adenosylhomocysteine (SAH), adenosine, and seven folate derivatives.

According to Dr. Audhya (personal communication), the reference ranges shown on the lab reports for each of these metabolites were derived from measurements on at least 120 healthy male and female volunteer medical students from ages 20 to 40, non-smoking, and with no known chronic diseases. The reference ranges extend to plus and minus two standard deviations from the mean of these measurements.

Glutathione (reduced): This is a measurement of the concentration of the
chemically reduced (active) form of glutathione (abbreviated GSH) in the blood
plasma. The reference range is 3.8 to 5.5 micromoles per liter.

Glutathione plays many important roles in the biochemistry of the body, including serving as the basis of the antioxidant enzyme system, participating in the detoxication system, and supporting the cell-mediated immune response, all of which exhibit deficits in CFS. The level of GSH in the plasma is likely to be more reflective of tissue intracellular glutathione status than the more commonly and more easily measured red blood cell or (essentially equivalent) whole blood glutathione level, which is about three orders of magnitude greater, because red blood cells are normally net producers of glutathione. Also, knowledge of the level of the reduced form, as distinguished from total (reduced plus oxidized) glutathione, which is more commonly measured, is more diagnostic of the status of glutathione function.

In order to be able to approximate the in vivo level of reduced glutathione when blood samples must be shipped to a lab, it is necessary to include special enzyme inhibitors in the sample vials, and these are included in the test kit supplied by these two laboratories.

Most people with chronic fatigue syndrome (PWCs), but not all, are found to have values of GSH that are below the reference range*. This means that they are suffering from glutathione depletion. As they undergo treatment to lift the partial methylation cycle block, this value usually rises into the normal range over a period of a few months. I believe that this is very important, because
glutathione normally participates in the intracellular metabolism of vitamin B12, and if it is low, a functional deficiency of vitamin B12 results, and insufficient methylcobalamin is produced to support methionine synthase in the methylation cycle. In my view, this is the mechanism that causes the onset of ME/CFS. This functional deficiency is not detected in a conventional serum B12 test, but will produce elevated methylmalonate in a urine organic acids test. In my opinion, many of the abnormalities and symptoms in ME/CFS can be traced directly to glutathione depletion.

Anecdotal evidence suggests that PWCs who do not have glutathione depletion do have abnormalities in the function of one or more of the enzymes that make use of glutathione, i.e. the glutathione peroxidases and/or glutathione transferases. This may be due to genetic polymorphisms or DNA adducts on the genes that code for these enzymes, or in the case of some of the glutathione peroxidases, to a low selenium status.

Glutathione (oxidized): This is a measurement of the concentration
of the oxidized form of glutathione (abbreviated GSSG) in the blood
plasma. The reference range is 0.16 to 0.50 micromoles per liter.

Normally, oxidized glutathione in the cells is recycled back to reduced glutathione by glutathione reductase, an enzyme that requires vitamin B2 and NADPH. If this reaction is overwhelmed by oxidative stress, the cells export excess GSSG to the plasma. In some (but not all) PWCs, GSSG is elevated above the normal
range, and this represents oxidative stress. It is more common in CFS to see this level in the high-normal range. This value may increase slightly under initial treatment of a partial methylation cycle block.*

Ratio of Glutatione (reduced) to Glutathione (oxidized): This is not shown explicitly on the panel results, but can be calculated from them. It is a measure of the redox potential in the plasma, and reflects the state of the antioxidant system in the cells. The normal mean value is 14. PWCs often have a value slightly more than half this amount, indicating a state of glutathione depletion and oxidative stress. This ratio has been found to increase during treatment of a partial methylation cycle block.*

S-adenosymethionine (RBC): This is a measure of the concentration of S-adenosylmethionine (SAMe) in the red blood cells. The reference range is 221 to 256 micromoles per deciliter.

SAMe is produced in the methylation cycle and is the main supplier of methyl (CH3) groups for a large number of methylation reactions in the body, including the methylation of DNA and the biosynthesis of creatine, carnitine, coenzyme Q10, melatonin and epinephrine. This measurement is made in the red blood cells because the level there reflects an average over a longer time and is less vulnerable to fluctuations than is the plasma level of SAMe.

Most PWCs have values below the reference range, and treatment raises the value.* A low value for SAMe represents a low methylation capacity, and
in CFS, it usually appears to result from an inhibition or partial block of the enzyme methionine synthase in the methylation cycle. Many of the abnormalities in CFS can be tied to lack of sufficient methylation capacity.

S-adenosylhomocysteine (RBC): This is a measure of the
concentration of S-adenosylhomocysteine (SAH) in the red blood cells. The reference range is 38.0 to 49.0 micromoles per deciliter.

SAH is the product of the many methyltransferase reactions that utilize SAMe as a source of methyl groups. In CFS, its value ranges from below the reference range to above the reference range. Values appear to be converging toward the reference range with treatment.

Sum of SAM and SAH: When the sum of SAM and SAH is below about 268
micromoles per deciliter, it appears to suggest the presence of
upregulating polymorphisms in the cystathionine beta synthase (CBS)
enzyme, though this may not be true in every case. For those considering following the Yasko treatment program, this may be useful information.

Ratio of SAM to SAH: A ratio less than about 4.5 represents low
methylation capacity. Both the concentration of SAM and the ratio of
concentrations of SAM to SAH are important in determining the
methylation capacity, because they affect the rates of the methyltransferase reactions.

Adenosine: This is a measure of the concentration of adenosine in the
blood plasma. The reference range is 16.8 to 21.4 x 10(-8) molar.

Adenosine is a product of the reaction that converts SAH to homocysteine. It is also exported to the plasma when mitochondria develop a low energy charge, so that ATP drops down to ADP, AMP, and eventually, adenosine. Adenosine in the plasma is normally broken down to inosine by the enzyme adenosine deaminase.

In some PWCs adenosine is found to be high, in some it is low, and in some it is in the reference range. I don't yet understand what controls the adenosine level in these patients, and I suspect that there is more than one factor involved. In most PWCs who started with abnormal values, the adenosine level appears to be moving into the reference range with methylation cycle treatment, but more data are needed.

5-CH3-THF: This is a measure of the concentration of 5L-methyl
tetrahydrofolate in the blood plasma. The reference range is 8.4 to 72.6 nanomoles per liter.

This form of folate is present in natural foods, and is normally the most abundant form of folate in the blood plasma. It is the form that serves as a reactant for the enzyme methionine synthase, and is thus the important form for the methylation cycle. It is also the only form of folate that normally can enter the brain. Its only known reactions are the methionine synthase reaction and reaction with the oxidant peroxynitrite.

When there is a partial block in methionine synthase, 5L-CH3-THF drains from the cells into the blood plasma by the so-called methyl trap mechanism. As other forms of folate are converted to 5L-CH3-THF, this mechanism depletes the cells of folates in general.

Many PWCs have a low value of 5L-CH3-THF, consistent with a partial block in the methylation cycle. Most methylation treatment protocols include supplementation with 5L-CH3-THF, which is sold over-the-counter as Metafolin, FolaPro, or MethylMate B (trademarks), and in the prescription medical foods supplied by PamLab, including Deplin, CerefolinNAC and Metanx. There are some others on the market that include both racemic forms (5L and 5R) of this folate.

When methylation treatment is used, the level of 5-CH3-THF rises in nearly every PWC. If the concentration of 5-CH3-THF is within the reference range, but either SAM or the ratio of SAM to SAH is below the reference values, it suggests that there is a partial methylation cycle block and that it is caused by inavailability of sufficient bioactive B12, rather than inavailability of sufficient folate. A urine organic acids panel will show elevated methylmalonate if there is a functional deficiency of B12. I have seen this combination frequently, and I think it demonstrates that the functional deficiency of B12 is the immediate root cause of most cases of partial methylation cycle block. Usually glutathione is low in these cases, which is consistent with such a functional deficiency. As the activity of the methylation cycle becomes more normal, the demand for 5-CH3-THF will likely increase, so including it in the treatment protocol, even if not initially low, will likely be beneficial.

10-Formyl-THF: This is a measure of the concentration of 10-formyl
tetrahydrofolate in the blood plasma. The reference range is 1.5 to 8.2 nanomoles per liter.

This form of folate is involved in reactions to form purines, which form part of RNA and DNA as well as ATP. It is usually on the low side in PWCs, likely as a result of the methyl trap mechanism mentioned above. This deficiency is likely the reason for some elevation of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) often seen in PWCs. This deficit may also impact replacement of cells lining the gut, as well as white blood cells.

5-Formyl-THF: This is a measure of the concentration of 5-formyl
tetrahydrofolate (also called folinic acid) in the blood plasma. The reference range is 1.2 to 11.7 nanomoles per liter.

This form is not used directly as a substrate in one-carbon transfer reactions, but it can be converted into other forms of folate, and may serve as a buffer form of folate. Most but not all PWCs have a value on the low side. It is one of the
supplements in some methylation protocols. It can be converted to 5L-CH3-THF in the body by a series of three reactions, one of which requires NADPH, and it may also help to supply other forms of folate until the methionine synthase reaction comes up to more normal activity.

THF: This is a measure of the concentration of tetrahydrofolate in
the blood plasma. The reference range is 0.6 to 6.8 nanomoles per liter.

This is the fundamental chemically reduced form of folate from which several other reduced folate forms are synthesized, and thus serves as the hub of the folate metabolism. THF is also a product of the methionine synthase reaction, and participates in the reaction that converts formiminoglutamate (figlu) into glutamate in the metabolism of histidine. If figlu is found to be elevated in a urine organic acids panel, it usually indicates that THF is low. In PWCs it is lower than the mean normal value of 3.7 nanomoles per liter in most but not all PWCs.

Folic acid: This is a measure of the concentration of folic acid in
the blood plasma. The reference range is 8.9 to 24.6 nanomoles per liter.

Folic acid is a synthetic form of folate, not found in nature. It is added to food grains in the U.S. and some other countries in order to lower the incidence of neural tube birth defects, including spina bifida. It is the oxidized form of folate, and therefore has a long shelf life and is the most common commercial folate supplement. It is normally converted into THF by two sequential reactions catalyzed by dihydrofolate reductase (DHFR), using NADPH as the reductant. However, some people are not able to carry out this reaction well for genetic reasons, and PWCs may be depleted in NADPH, so folic acid is not the best supplemental form of folate for these people.

Low values suggest folic acid deficiency in the current diet. High values, especially in the presence of low values for THF, may be associated with inability to convert folic acid into reduced folate readily, such as because of a genetic polymorphism in the DHFR enzyme. They may also be due to high supplementation of folic acid.

Folinic acid (WB): This is a measure of the concentration of folinic acid in the whole blood. The reference range is 9.0 to 35.5 nanomoles per liter.

See comments on 5-formyl-THF above. Whole blood folinic acid usually tracks with the plasma 5-formyl-THF concentration.

Folic acid (RBC): This is a measure of the concentration of folic acid in the red blood cells. The reference range is 400 to 1500 nanomoles per liter.

The red blood cells import folic acid when they are initially being formed, but during most of their lifetime, they do not normally import, export, or use it. They simply serve as reservoirs for it, giving it up when they are broken down.

Many PWCs have low values of this parameter. This can be caused by a low folic acid status in the diet over the previous few months, since the population of RBCs at any time has ages ranging from zero to about four months. However, in CFS it can also be caused by oxidative damage to the cell membranes, which allows folic acid to leak out of the cells. Dr. Audhya reports that treatment with omega-3 fatty acids has been found to raise this value over time in one cohort.

If anyone finds errors in the above suggestions, I would appreciate being notified at richvank@aol.com.

* Nathan, N., and Van Konynenburg, R.A., Treatment Study of Methylation Cycle Support in Patients with Chronic Fatigue Syndrome and Fibromyalgia, poster paper, 9th International IACFS/ME Conference, Reno, Nevada, March 12-15, 2009. (http://www.mecfs-vic.org.au/sites/w...Article-2009VanKonynenburg-TrtMethylStudy.pdf)




12.
March 30. 2011

SIMPLIFIED TREATMENT APPROACH
FOR LIFTING THE PARTIAL METHYLATION CYCLE BLOCK
IN CHRONIC FATIGUE SYNDROMEMarch 30, 2011 Revision
Rich Van Konynenburg. Ph.D.
(Based on the full treatment program
developed by Amy Yasko, Ph.D., N.D.
which is used primarily in treating autism [1])

SUPPLEMENTS

1. General Vitamin Neurological Health Formula [2]: Start with tablet and increase dosage as tolerated to 2 tablets daily
2. Hydroxy B12 Mega Drops [3]: 2 drops under the tongue daily
3. MethylMate B [4]: 3 drops under the tongue daily
4. Folinic acid [5]: capsule daily
5. Phosphatidyl Serine Complex [6]: 1 softgel capsule daily (or lecithin, see below)

All these supplements can be obtained from http://www.holisticheal.com.
The fourth supplement comes in capsules that contain 800 mcg. It will be necessary to open the capsules, dump the powder onto a flat surface, and separate it into quarters using a knife to obtain the daily dose. The powder can be taken orally with water, with or without food.
These supplements can make some patients sleepy, so in those cases they take them at bedtime. In general, they can be taken at any time of day, with or without food.
Phosphatidyl serine can lower cortisol levels. Patients who already have low evening cortisol levels may wish to substitute lecithin [7] (at one softgel daily) for supplement number 5 above. Lecithin is also available from http://www.holisticheal.com.
For those allergic to soy, lecithin from other sources is available.
GO SLOWLY. As the methylation cycle block is lifted, toxins are mobilized and processed by the body, and this can lead to an exacerbation of symptoms. IF THIS HAPPENS, try smaller doses, every other day. SLOWLY work up to the full dosages.
Although this treatment approach consists only of nonprescription nutritional supplements, a few patients have reported adverse effects while on it. Therefore, it is necessary that patients be supervised by physicians while receiving this treatment.

[1] Yasko, Amy, Autism, Pathways to Recovery, Neurological Research Institute, 2009, available from http://www.holisticheal.com or Amazon.
[2] General Vitamin Neurological Health Formula is formulated and supplied by Holistic Health Consultants LLC.
[3] Hydroxy B12 Mega Drops is a liquid form of hydroxocobalamin (B12), supplied by Holistic Health Consultants. 2 drops is a dosage of 2,000 mcg.
[4] MethylMate B is a liquid form of (6s)-methyltetrahydrofolate supplied by Holistic Health Consultants, based on Extrafolate S, a trademark of Gnosis S.P.A. 3 drops is a dosage of 210 mcg.
[5] Folinic acid is 5-formyltetrahydrofolate. capsule is a dosage of 200 mcg.
[5] Phosphatidyl Serine Complex is a product of Vitamin Discount Center. 1 softgel is a dosage of 500 mg.
[7] Lecithin is a combination of phospholipids without phosphatidylserine. One softgel is a dosage of 1,200 mg.
 

richvank

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To all:

These documents have been moved from the General Wiki pages to this thread. I would appreciate it if people would not post responses to this thread, as it is intended to be just a list of documents. Thank you.

Rich Van Konynenburg
 
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