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DetoxiGenomic results just came in!

Discussion in 'General Treatment' started by Thinktank, May 8, 2013.

  1. Thinktank

    Thinktank Senior Member

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    Europe + South East Asia
    Hello all,

    I'm a Dutch expat living in Thailand. I've been quite sick for the past 9 years but symptoms started in my early teens. Conventional doctors have failed miserably so i'm focusing on functional medicine now.

    The first step to a better understanding of the root-cause of all my diseases was a comprehensive checkup with genova diagnostics. Tests i have done are: DetoxiGenomic, Nutreval plasma, Leaky gut assessment, Complete male hormones, Candida intensive culture and CDSA 2.0.
    I got only a few back from genova and have to wait another 4 to 5 weeks for nutreval and complete male hormones.

    I'd love to hear your thoughts on the result of the detoxigenomic test.

    detoxigenomic.jpg
     
  2. Thinktank

    Thinktank Senior Member

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    I copied this from the detoxigenomic profile but unfortunately i don't find it very helpful because i can't interpret it very well. It shows some genes carry the mutation but what does that mean to the expression? Are they downregulated or upregulated? Especially the homozygous mutation on the SOD2 gene is what concerns me.

    CYP2C9
    Health Implications : Cytochrome P450 2C9 is involved in the metabolism of many drugs including blood thinners like
    Coumadin®. Polymorphisms may prevent the normal metabolism of these drugs and side effects are possible.
    Minimizing Risks: Your health care provider has a list of drugs cleared through CYP2C9. Consult your physician. You
    may still need these drugs, but your physician may opt to prescribe a smaller therapeutic dose. Should you need to be
    placed on a blood thinning agent in the future, make sure your physician knows you have a genetic polymorphism that
    impairs your ability to break down Coumadin®. If you are taking aspirin to reduce the risk of colon cancer, switch to a
    non-aspirin alternative.

    CYP2E1
    Health Implications: Cytochrome P450 2E1 is involved in the activation of nitrates and nitrites (found in smoked meats
    and bacon) into nitrosamines that may promote the development of colorectal cancers, especially if in combination
    with a polymorphism either in CYP1A1 or GSTM1.
    Minimizing Risk : Reduce or eliminate the consumption of smoked meats and bacon. Avoid exposure to industrial
    solvents. Broccoli and black tea have both been shown to be significantly protective in vivo, and other cruciferous
    vegetables, garlic and green tea have been shown to be protective in vitro.
    Physician Recommendations:

    + - NAT2 I114T
    + - NAT2 R197Q
    Health Implications: N-acetyltransferase 1 is found in extra-hepatic tissues, while NAT2 is found predominantly in the
    liver and the gut. Both are used in the Phase II acetylation of numerous environmental toxins, including heterocyclic
    aromatic amines. Slow acetylators do not clear toxins well and the resulting increased total toxic burden can increase
    the risk of lung, colon, breast, bladder, and head and neck cancers, though results have not been consistent in all
    studies. Urinary bladder cancer appears to have the most consistent association with slow acetylation.
    Minimizing Risk: If you smoke, stop. Your risk of lung cancer is substantially higher than someone with normal NAT
    activity. Even occasional smoking or exposure to second hand smoke is harmful. Liberal consumption of most
    vegetables and fruits but especially cruciferous vegetables (broccoli, Brussels sprouts, cauliflower, watercress, and
    cabbage), garlic, onions, soy, grapes and berries will increase Phase II efficiency, including acetylation.

    + - NAT2 K268R
    Health Implications: N-acetyltransferase 1 is found in extra-hepatic tissues, while N-acetyltransferase 2 is found
    predominantly in the liver and the gut. NAT2 is the enzyme that controls Phase II acetylation of numerous
    environmental toxins, including heterocyclic aromatic amines. Rapid acetylators increase O-acetylation of toxins that
    can actually make the toxins more reactive. These transformed toxins may increase risk of developing lung, colon,
    breast, bladder, head and neck cancer, though results have not been consistent in all studies. Colon cancer appears to
    have the most consistently reproducible association with fast acetylation.
    Minimizing Risk: If you smoke, stop. Your risk of lung and breast cancer is substantially higher than someone with
    normal NAT activity. Do not eat fried foods and minimize red meat as these substantially increase your risk of colorectal
    cancer. Avoid well-done meats as these may substantially increase your risk of breast cancer. Liberal consumption of
    most vegetables and fruits but especially cruciferous vegetables (broccoli, Brussels sprouts, cauliflower, watercress and
    cabbage), garlic, onions, soy, grapes and berries will increase Phase II efficiency, including acetylation.

    PRESENT GSTM1 1p13.3
    +- GSTP1 A114V
    + - GSTP1 I105V
    Health Implications: Glutathione S-transferases (GST) are responsible for detoxifying certain products of oxidative
    stress and a variety of electrophilic xenobiotics and carcinogens such as solvents, herbicides, pesticides, polycyclic
    aromatic hydrocarbons, steroids, and heavy metals. GSTM1 is located primarily in the liver, whereas GSTP1 is
    located primarily in the brain and lungs.
    The test indicates that the GSTM1 gene is present, although it is not clear whether the gene is present on one or
    both chromosomes. This suggests normal GSTM1 enzyme activity and hepatic detoxification of xenobiotics and
    toxic metals.
    GSTP1 polymorphisms are associated with either higher or lower enzyme activity, depending on the exposure.
    This genotype is associated with increased risk of various cancers, especially with cigarette smoke exposure. Risk
    may also be increased for late-onset Alzheimer's, and Parkinson's disease in smokers.
    Minimizing Risk: Minimize exposure to cigarette smoke, charred food, herbicides, fungicides, insect sprays,
    industrial solvents, and toxic metals. Ensure availability of glutathione (GSH) precursors and cofactors, e.g.,
    methionine, N-acetylcysteine, glutamine, glycine, magnesium, and pyridoxal-5-phosphate (B6). GSH depletion may
    be reduced by alpha lipoic acid, milk thistle, and taurine. Allium vegetables (e.g., onions, leeks, garlic) and
    crucifers (e.g., broccoli, cauliflower, cabbage, kale, Brussels sprouts, radish sprouts) can increase GST activity and
    reduce cancer risk. Consume an antioxidant-rich diet to prevent oxidative stress.

    + + SOD2 A16V
    Health Implications: Superoxide dismutase is the primary anti-oxidant enzyme within the mitochondria of cells
    (where most of our energy is made). SOD2 converts reactive oxygen species into less reactive hydrogen peroxide.
    Polymorphisms in SOD2 (+/- and +/+) are associated with reduced SOD activity. While this may increase some risk of
    oxidative stress, more clinical correlations have been observed for the (-/-) genotype. This genotype has specifically
    been associated with increased risk of cardiomyopathy.
    Minimizing Risk: Although this genotype is less sensitive to antioxidant status compared to the (-/-) genotype, liberal
    consumption of dietary antioxidants in colorful vegetables and fruits is still recommended. Broad-spectrum
    antioxidant supplements may also be helpful, as well as manganese, which serves as a cofactor for SOD2. Consult
    your health care provider to find the supplement regimen that best fits your overall health anti-oxidant needs.
     
  3. Thinktank

    Thinktank Senior Member

    Messages:
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    Europe + South East Asia
    I've seen a functional medicine practicioner today and all i can say is wow what a difference with the arrogant conventional medicine practitioners. I wish i knew of functional medicine 10 years ago when this whole ordeal started!
    The outcome is i have "CFID".​
    Anyway, he looked at my detoxigenomic profile and told me i've to do everything i can to support the SOD detoxification system. He recommends me to take NAC and Glutamine intravenously because i have overgrowth of 2 different candida species, along with a very high overgrowth of some pathogenic bacteria!​
    NAC and glutamine might "feed" the pathogens and my gastrointestinal lining is all inflamed so IV might be the better choice.​
    Other things recommended are taking LDN, avoid sulphur containing supplements (orally) and sulphur containing foods for a while, start with a 20-days diflucan course to reduce candida. Go back on the GAPs-diet and avoid all gluten and dairy.​
    I've another appointment in 4 weeks and i've to see a functional nutrition expert next tuesday.​
    Has anyone here taken NAC and Glutamine the intravenously route to support SOD2? Or perhaps even with MnSOD? Taking SOD intravenously bypasses the gastric juices which usually destroys SOD.​
    The only problem with IV SOD is the rapid renal clearance.​
    Genova testing and scopies so far show:​
    Scopies + biopsies:
    Unspecific colitis, ileitis, gastritis, duodenetis and GERD​
    Nodular lymphoid hyperplasia in the ileum (Due to RMM vaccine? Dr. Andrew Wakefield's study.. anyone?.....)​
    Leaky gut
    CDSA 2.0:
    Overgrowth of Klebsiella pneumonia (4+) and Bacillus Cereus (4+)​
    Overgrowth of Candida albicians, Candida kruseii and Saccharomyces cerevisae (debatable if pathogenic)​
    Low LCA / DCA ratio (0.15)​
    Low beta-glucuronidase (334)​
    High eosinophil protein X (60)​
    Detoxigenomic:
    See Screenshots above. Double mutation on SOD2 + others​
    Complete male hormones:
    Awaiting results​
    Nutreval:
    Awaiting results​
    Candida intensive culture:
    IgG against candida, 22 outside range​
    Misc. labtesting:
    Very high percentage eosinophils (20%, CBC test normal 1 to 3%)​
    Low C3​
    Positive IgG rubella, Measles, Mycoplasma, Mumps (MMR vaccine)​
    Low PM cortisol​
    IgG and IgE against 260 foods
    Awaiting results​
     
  4. alex3619

    alex3619 Senior Member

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    Logan, Queensland, Australia
    I think its important to know which specific SOD2 mutation/s you have, as well. A mutation propably reduces function, but not expression. A double mutation might be two different mutations in the two different different copies of the same gene: knowing the specifics is important. For example, a mutation in the promoter region of the gene would probably have the same function of the SOD but reduces expression.

    I think it might also be important to be taking some form of CoEnzyme Q10, and its support molecules including vitamins C & E, and lipoic acid. This is because poor SOD2 function may leave you depleted of CoQ10. Have you had your CoQ10 measured?

    NAC is probably a good idea at first, but later you might like to look at other ways of boosting glutathione.
     
  5. Thinktank

    Thinktank Senior Member

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    I understand, i need to dig deeper into the SOD2 mutation. Do you perhaps know who / what can help me with that?

    I've already started taking CoQ10, Vit C (buffered), B12, Methylfolate, D, Zinc. Waiting for the nutreval, 23andme and redlabs tests to see what else i have to supplement with.
    Q10 is measured in the genova nutreval test, i'll get the result in 4 weeks or so.

    Agree with NAC, the doc. recommended it along glutamine IV to boost the healing of the intestinal lining as a first step.
    Lipoic acid, i get sick and lots of brain fog when taking it. Doc said it's because it's sulfur based. I have the same reaction to onions & garlic. I remember Dr. KDM saying something about sulfur & bacteria, i've ordered the neurotoxic elements test from him which i expect to arrive next week.
    I might try Alpha Lipoic Acid by IV, i've read some very interesting things on it.
     
  6. alex3619

    alex3619 Senior Member

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    Logan, Queensland, Australia
    You first need to know the position of the snp/s (single nucleotide polymorphism) or other alterations (there are more than just snps). Then you need to know the type of alteration. I forget the nomenclature, its been over a decade since I did this, but the specific snp will have an ID and you can use that to search. PubMed and other NIH databases are often good for this - there is a lot of genetic information hosted by the NIH. Otherwise the company that does the test might know where to look. Again I have not done this myself in like 12 years, so I have forgotten most of the details.
     
  7. Thinktank

    Thinktank Senior Member

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    Thanks for telling me, anything that helps me to find out more is very much appreciated.
    It does show the SNP location, for example SOD2 = A16V. A screenshot of the genetic result can be found in the first post.
    So you say that with knowing the location i can find the specific expression?

    Genetics is something new to me and i'd very much like to learn more about it.
    Anyone who can recommend me a few books on genetics, basics and interpretation?
     
  8. blessed4431

    blessed4431

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    i have double positives for NAT2 R197Q and SOD2 A16V can anyone explain what this means and what i should do about it
     

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