Neuromuscular damage from B12 deficiency - take action or wait for neurology appt.?

[Freddd]

Yes, except it should be changed to American Food syndrome or Industrialized world food syndrome for more accuracy. Example, my dad had alzheimers so glutamates are a big no, no but older folks don't learn about things like this so well. Since glutamates excite the nerve to death, I didn't want him eating these foods & yet, this is exactly what they were eating. People don't want to cook much when they live alone, get older, or have big families so they tend to eat fast foods, boxed foods, etc. Their "Rice a Roni" not only had MSG right on the box but it had 16 other chemicals that were all hidden MSG! Their Ken's Steakhouse salad dressing had 22! Their Campbell's soup had 13 and their boxed herbed pasta mix had a whopping 27! Now consider you'll have natural glutamates in the steak you eat, the tomotates you eat on your salad, and maybe the black olives you have on the side but you'll be adding up to 30 or 40 chemicals with your side dish and dressing!

The food manufacturers became savvy about this negative association with MSG so started calling these chemicals other things. Now you feel safe and secure that you aren't eating any MSG at all, unless you eat some chinese food here & there, when nothing could be further from the truth. This is why you can sit down and finish an entire bag of Dorito's while you'll only eat a bowl of plain chips. Its a great tactic to get us to buy their food. In a way, their sorta stuck now because who would buy Campbell's if it didn't have MSG to make it tasty? You'd just buy Progresso and then Campbell's would go down the drain. Its a sad affair that the majority of the food we eat actually causes neuroinflammation and outright nerve/neuron death.

Hi Angela,

The reason I mentioned the old name, "Chinese restaurant syndrome" is that was what my M-I-L identified it was one evening when my wife and I went out to eat at a Chinese restuarant back in the early 70s and I had one whale of a reaction. Now however, with the mb12 which is protective against glutamate toxicity at the neuron level, I have no reaction at all to it. That is something that changed dramatically. During the worst 20 years I hardly dared to eat out. Now, while I am careful to choose where I eat and what I eat, I often eat at a Chinese restaurant and have no problem at all. I can use soy sauce without any problem when I cook at home. I don't eat any salad dressings and avoid most sauces and things because I don't like them and also won't eat things with 22 chemicals. But msg is not a problem. That changed with the mb12.

 

[adreno]

Sorry, I forgot about some info on those SNPs. Here are the basics as I understand them. Take it with a grain of salt since I like the bottom line:

NOS
Nitric Oxide Synthase is in the urea cycle, which is responsible for ammonia clean up and making nitric oxide (think of Dr. Pall's NO/ONOO research) which is supposed to keep the blood vessels open and free of any plaque but this region also cleans up the stuff from the oxidation fallout, like free radicals. It takes a chemical called BH4 to do all of that and that comes of the DHPR enzymes (which is controlled by the MTHFR A1298C enzyme). The only trouble is, many have a defect in the MTHFR too so if both are out, there are really going to be troubles here. No BH4 means no toxic waste clean up and that's bad since you have huge build ups of ammonia which is irritating to the brain & tissues as well as too many free radicals running around "beating up other cells and stealing their wallets, or their positive energy, essentially leaving them for dead" this is my doctor's explanation and I like it.

CBS
Cystabetahionine Synthase which is the door or gateway to the liver (thru transulfuration) and kidneys (thru urea cycle) so that everything is filtered out here, converted into better forms (if there isn't a defect), and glutathione is made. A defect here means it works too well, like a type A CEO or something. It drains all of the good guys, methyl groups, & vitamins/minerals, etc out of the methylation cycle and dumps it all onto the liver & urea cycle as toxic versions of ammonia and sulfites. This means that the more protein you eat and the more supplements you take, it just dumps out through this open barn door, letting the horses out. Only now the horses are wild & dangerous.

MTHFR A1298C
This is a rather common defect, between it and the C677T, probably 50% or more of the population have at least one block in one of these areas. This enzyme seems to activate that DHPR enzyme so that BH4 is made. This chemical is really interesting since it seems to do everything. I like my doctor's explanation on this one too & it goes something like this "BH4 is your mother. She's a multitasking dream who can manage housekeeping duties (lending out chemicals to NOS for clean up & heart/brain preservation), keeping everyone in the family up to date on current events and other family members (communication throughout the brain & nervous system with dopamine, serotonin, & nor-epi. I think melatonin also) and her only goal is to keep you healthy (neurotransmitters talk to the immune system and keep a cold from being something much worse, etc).

I have partial defects in all 3 of these so this is what it means to me:
CBS
Too much toxic waste dumping through the barn door (some call this the hole in the bucket because of Down's syndrome)
It means sulfur isn't neutralized to sulfate, a less harmful form but turns into Toxic sulfites instead. If you have the SUOX defect on top of this, your really up a creak without a paddle since you can't convert sulfur much at all & stuff like broccoli or garlic become a problem). Not only that, you can't process alcohol well (which is why I use to get a wicked hangover whenever I drank!) or homogenized milk. The milk takes some crazy enzyme to process it that uses up molybenum so people probably don't do well because of that. This one also causes more phenol sensitivity and since I eat berries, apples, and every other fruit and vegetable like gangbusters (only to have headaches and migraines later without knowing why) I now take Houston's No Fenol enzyme and its so much better. I also sprinkle yucca on my protein to minimize the ammonia coming through the gate and I'm not positive yet but I think this has led to much less brain fog by the end of the day. Alotta times, ammonia & sulfite build up causes brain fog, lethargy, weakness, irritability, headaches, and all kinds of fun stuff!

NOS
My garbage trucks don't work and the supervisor in that area "plays poker all day with his feet up, drinking a beer & watching my garbage pile up more" another one of my doctor's explanations (you can probably see why I like her now, she's a hoot!)
Now my blood vessels are shrinking up and probably building plaque so when I have chest pain in another 10 years, I'll know why.

MTHFR
My mom's horribly dysfunctional, the "sort of mom who puts her kids in the backyard all day ignoring them while she watches soap operas and talks on the phone" (again, my doctor)so you have no clue what's going on in the family, you keep getting long, lingering colds that often become sinus infections, pneumonia, or ear infections, and you can't pay attention to your school work since your dopamine is too low.

Not terribly scientific but it seems to work for me.

You might like her explanations of the whole cycle but she seems to leave her more colorful descriptions for when she talks to us. But they're still better than the Dr. Yasko version, as if anything wouldn't be better than that! I hope this helps a bit.

http://autismnti.com/yourbodyschemistry.html

Angela

Wow, that's a really nice overview, thanks! Do you happen to have the SNP numbers handy? For instance, NOS refers to the NOS1 gene, or? Doing a search on SNPedia gives me a whole bunch of results.

 

[greenshots]

Hi Angela,

The reason I mentioned the old name, "Chinese restaurant syndrome" is that was what my M-I-L identified it was one evening when my wife and I went out to eat at a Chinese restuarant back in the early 70s and I had one whale of a reaction. Now however, with the mb12 which is protective against glutamate toxicity at the neuron level, I have no reaction at all to it. That is something that changed dramatically. During the worst 20 years I hardly dared to eat out. Now, while I am careful to choose where I eat and what I eat, I often eat at a Chinese restaurant and have no problem at all. I can use soy sauce without any problem when I cook at home. I don't eat any salad dressings and avoid most sauces and things because I don't like them and also won't eat things with 22 chemicals. But msg is not a problem. That changed with the mb12.

I can imagine you had a big reaction! You're lucky you weren't one of those earlier people who died from cardiac arrest considering the folate defect & the amount of straight MSG they literally poured into the foods. But for those of us with general methylation defects, we have harder time processing all of that poison anyway so its no wonder we're all sick these days between the food being rife with hidden MSG, the air with coal burning toxins, the water with an unidentified 1850 toxins (based on a toxicology conference at The Mind Institute last year), and God only knows what else. While I agree that Methyl B12, antioxidants, etc., will drastically improve methylation and therefore allow you to process it better, I think you aren't aware of the damage its causing. It causes prolonged nerve & brain cell inflammation that appears to get worse within a 24 hr period, rather than better. So while I don't get migraines or Insomnia anymore now that I'm on a really good diet & regimen, I'm still cautious about eating too much processed food since its been proven--By Blaylock, Olney, & Shwartz, MD's as well as many more---that the damage is progressive in every lab animal ever studied from pigs & chickens to mice, rats, and monkeys. The reason the MSG company's studies didn't find these same issues was the fact that they gave the chimps a drug before the study that is a known glutamate blocker, therefore, none of them developed the damage typically found in the hypothalamus as well as the entire HPA axis. In fact, my kid's doctor is convinced that alot of the work Dr. Shoemaker does with CFS/ME is really due to both the mold as well as the widespread MSG toxicity since they target the same exact areas in the brain since the blood brain barrier isn't developed there and can't protect it. I don't know since I haven't studied it to the extent she has but she knows all the typical labs that are off with glutamate toxicity, after they studied its damage to the HPA, and I guess they correlate with Dr. Shoemaker's stuff on MSH, and a few others. But since I studied MSG & Phenols alot for my son, and then my daughter (thank God my other son is still healthy!) I know that even though you may not feel its' effect, its still there causing oxidative stress and damage but maybe we are preventing 75% of it with the better lifestyle. I just don't want you to feel protected when its not completely true as that stuff is so toxic it just keeps going & going. Your affects are just probably milder like some transient zippiness or fatigue or some milder bladder stuff, irritability, or your sleep not being as restful or easy rather than heart racing, diarrhea, and terrible headaches as so many people have. I don't think its a coincidence that white matter lesions are super common with MSG toxicity and yet CFS/ME, MS, Dementia, Autism, etc., are so unbelievably common these days, well, really in the past 25 years. The recent stats show that Alzheimer's is on par with autism rates! Yet we have the most hidden chemicals we've ever had in our food now that they can't come clean and admit their in there. Hydrolyzed pea protein has Glutamate, cysteine, aspartate and carcinogenic additives and that's just one chemical additive with all of that in there.

I don't think its only the food or anything but considering that all of these disorders are almost all at epidemic levels and we tend to eat 3 or 4 times a day and its usually processed something or other, its certainly a huge factor. You may not be aware that some researchers have speculated that folate additives in the food might actually be partly responsible for autism rates. This is because of the lack of absorption due to MTHFR and other defects so that all the folate in these foods are building up to toxic levels. Dr. Yasko explains this part much better but apparently Folate and glutamate look the same at the molecular level so if you have defects that don't allow you to absorb folate and you get it in just about everything you eat, then your doctor gives you a prental vitamin jam packed with more folate, it builds up & acts as an excitotoxin. The poor kids are behind the 8 ball in utero just because we want to reduce rates of spina bifida in a much smaller percentage of patients. I came across maybe a handful of studies about this 5-6 years ago when I had the brainpower to read about such things so I can't say how valid it is now, but it sure is interesting and probably just one more piece of the 500 piece puzzle. But you can see how they all start to add up given the fact that we already have way too much glutamate in the food supply, then its in natural foods since we do need glutamate & mother nature probably didn't figure we'd overdose on it later on in processed foods, and then all the folate that can't be used acting as glutamate.

I think when its all said & done you take our genes and put them in people living 500 years ago, we'd be mostly fine with some issues coming on in old age but having this mix in such processed, toxic times doesn't seem to make them pan out so well. Where people used to have dementia, Parkinson's or ALS much less often and very sporadically, and usually in old age, we now find these diseases are on par with autism rates now. Its certainly not a genetic epidemic all of a sudden so what's changed? Its not likely just a benign coincidence that Folate and MSG were added in increasing abundance within the last 20 years and look what we have now? PWC, autism, dementia all over the place? Of course, there are more factors at play, its never just one or two things as that would just be too easy wouldn't it.

Anyway, this is clearly an area that I feel passionately about. I never thought twice about it until my doctor pointed out my processed foods from Whole Foods & Trader Joe's were full of the stuff as I thought I was safe feeding my kids those foods. But I guess nobody's safe when it comes to making a buck. In fact, you remind me a bit of John Erb, the guy who pursued his theory about glutamates for 20 years and wrote "The Slow Poisoning of Mankind". I've never doubted that committed people can change the world when they stick to their guns.

I've also thought over the symptoms for glutamate toxicity and I just wonder how many of these are on your Folate list?
Glutamate symptoms--scroll to page 8 for this list

http://autismnti.com/images/Excitotoxins-_Website_version.pdf

Just like with the sulfur or ammonia provokers being like folate deficiency? How to weed through all of those? BTW, I looked it up and NAC and Glutathione are both potent sulfur donors as well as ammonia provokers so how to tell them apart?

http://autismnti.com/images/Website-_Yasko_Education.pdf

You'd almost need to have an algorithm like we had in the ICU for heart attacks, strokes, or sepsis. But maybe for those who know their genes and have documented BHMT, CBS, SUOX(rarer), NOS, etc., you could see how their symptoms correlate vs. documented folate deficiency or something. I don't have the SUOX but I know someone who does and she has the typical issues with horrible heartburn/reflux type symptoms that could never really be addressed and was on Prevacid for this at age 20 without any benefits from it at all but once she started Yasko's treatment for that she's been fine. I know they use molybenum(sp?), B12 (Aha!), boron and something else for this issue. I also know that low B12 can cause a "functional SUOX deficiency" so these people who could never tolerate red wine or the older versions of dried fruits where they used sulfites, are probably dead ringers for that defect and aren't likely to respond well to more sulfur whether its broccoli or cabbage every day or NAC and glutathione. They also tend to have rotten egg breath & gas, especially when they eat eggs, etc., with higher levels of sulfur but people with a lot of hydrogen sulfide bacteria can have that as well. I don't think it'll ever be easy for you to have a nice, clean way to differentiate between folate deficiency, potassium, or the defects causing more ammonia and sulfites. It seems to just layer more things onto your problem solving but for those who don't respond as you've expected, maybe seeing if they have the obvious SUOX stuff or more likely, the more common CBS stuff with higher ammonia and sulfites. They get more brain fog as the day goes on from the protein, supplements, etc., they've taken in and it tends to build up and cause headaches, irritability, memory issues, tremors, and even seizures, etc., and in kids, more flapping or tremors.

Glutamate symptoms--scroll to page 8 (she tends to write too much sometimes for my taste)

http://autismnti.com/images/Excitotoxins-_Website_version.pdf

Seems like a lot of work in the end but I think the only way you could weed out the various things is some kind of tiered charting or algorithm?

I hope this helps somewhat even though its so long!
Angela

 

[greenshots]

Wow, that's a really nice overview, thanks! Do you happen to have the SNP numbers handy? For instance, NOS refers to the NOS1 gene, or? Doing a search on SNPedia gives me a whole bunch of results.

I forgot something kind of important though since the MTHFR A1298C also regulates SAM somehow, in the folate cycle, so those with that defect need more SAMe and usually do pretty well on it. If you read some of the stuff my doctor's done on this, it will be obvious I've stolen her analogies and made some of them much, much shorter but I seem to stick the ones in my brain that strike a chord with me the best and further shorten up the others. I think this stuff is hard enough as it is so doing whatever you can to remember it is what matters!

I also looked it up today since CBS didn't look right the way I had it & its totally wrong since its Cystathionine beta synthase and this upregulation converts the methylation products into Taurine first (instead of glutathione) and then to ammonia or sulfites, so its a big reason we have lousy immune systems and more oxidative stress since it drains more of that chemical, BH4 much faster & making more waste to be cleaned up and cause free radical damage.

I'm pretty sure my doctor or Dr. Vank could give you a much better run down than I did since they know the fancier terms (and know how to pronounce & probably spell them!)but I always liked having the bottom line first and then diving in for more.

Below are the only things I have on the genes as they relate to Yasko and the place I had my SNPs done, 23&me because my doctor was trying to figure out which ones I had since I can't do the Yasko ones with 3 kids, 2 of them being on this crazy protocol. She figured out 3 or 4 of them but couldn't get farther and it didn't mean anything to me at all but maybe this will help you.

Angela




Cheat Sheet for 23andMe and Yasko found via a websearch @ Phoenix Rising

Gene Yasko
Name Yasko
normal 23andMe
Name 23andMe
normal
COMT V158M G(-) rs4680
G (plus)
COMT H62H C(-) rs4633
C (plus)
COMT 61 G(-) rs769224
G (plus)
VDR Taq T(+) (rs731236)
VDR Fok rs10735810 ?

MAO-A R297R G(-) T(+) rs6323
G (plus)
ACAT 1-02 A(+) N/A
ACE Del16 I(-) rs1799752
I (plus)
MTHFR C677T C(-) T(+) rs1801133
G (minus)
MTHFR 3 C(-) N/A
MTHFR A1298C A(-) rs1801131
T (minus)
MTR A2756G A(-) rs1805087
A (plus)
MTRR A66G A(-) rs1801394
A (plus)
MTRR H595Y C(-) rs10380
C (plus)
MTRR K350A A(-) rs162036?
A (plus)
MTRR R415T C(-) rs2287780?
C (plus)
MTRR S257T T(-) (rs2303080) ?
MTRR 11 G(-) N/A
BHMT 1 (-) rs492842? ?
(minus)
BHMT 2 C(-) rs6894156?
C (plus)
BHMT 4 (-) rs6875201 or
rs379754 (plus)

BHMT 8 T(+) rs3797546 or
rs567754
(plus)
(plus)
AHCY 1 A(-) N/A
AHCY 2 T(-) rs1205357
(plus)
AHCY 19 A(-) N/A
CBS C699T C(-) rs234706
(plus)
CBS A360A C(-) T(+) (rs1801181)
SUOX S370S (-) N/A
SHMT C1420T G(-) (rs1979277) ?
NOS D298E (-) rs1799983 ?
(plus)

***23andMe has consistently not had at least 8-10 of the 30 Snips on Yaskos panel: SUOX, ACAT, AHCY 1 & 19, VDR Fok, MTRR S257T, MTR 11, MTHFR 3 and it appears that they no longer carry the SHMT or NOS based on what I could decipher with other's results. I Will have to double check this later. It also looks as though 23andMe have dropped some of the BHMT snips so not good if so. Strange too since there is so much work out there on the MTHFR 3 & NOS with regard to heart disease.

Note to self, this is a posting I found dated 8-1-2011 on the website ''Phoenix Rising'', a CFS/ME site where Rich helps out so I will have to ask him about progress on this toward the end of the year in the event they truly crack the code.

For a conversion, it is helpful to know that as far as call letters go, G=C and A=T
So some SNP's on Yaskos testing might be listed using C or T and 23andME uses A and G.
For example, Yaskos CBS A360A, (rs1801181) is +T/-C, whereas 23andme result is a GG, which translates to CC, remember, G=C and T=A. So translated to CC and C is '-' in Yasko variant, then the 23andme would read as -/- or normal.
In Yasko-speak:
A '-' means you have the 'normal' genetic variant A '+' means you may have issues with that enzyme
A '+/+ is abnormal A '+/- is one you may still want to pay attention to and may derive benefit from supplementation A '-/-' is normal

Here is a list in which correlates the 23andme rs#s with Dr. Yasko's references.
Out of the 32 SNP's Dr. Yasko tests for in the methylation cycle, 23andme gave me 26 out of the 32. The six I got a 'no call or no result' are in blue, but the info still in that line is correct for others to use. I don't know if these six will be across the board for everyone. I do know there are some of which were discussed somewhere around here.
ACE Del16, rs1799754, +D/-l
CBS A360A, rs1801181, +T/-C CBS Y233Y (C699T), rs234706, +A/-G
COMT (H62H), rs4633, +T/-C COMT (V158M), rs4680, +A/-G COMT (L136L), rs4618, +C/-G COMT -61 (P199P), rs769224, +A/-G
MAO-A (R297R), rs6323, +T/-G MTHFR A222V (C677T), rs1801133, +T/-C

MTHFR E429A (A1298C), rs1801131, +C/-A MTHFR P39P, rs2066470, +T/-C
MTR A9196 or A27566, rs1805087, +G/-A
MTRR H595Y, rs10380, +T/-C MTRR K350A, rs162036, +G/-A MTRR S257T, rs2303080, +A/-T MTRR A9196G (A66G), rs1801394, +G/-A MTRR A664A, rs1802059, +A/-G
NOS D298E (G894T), rs1799983, +T/-G
SUOX S370S, no rs#, +C/-T SOUX A628G, rs7297662, +G/-A
VDR Bsm/Taq, rs1544410, +A/-G VDR fok1, rs10735810, +T/-C
ACAT-02, rs3741049, +T/-C
AHCY-01, rs819147, +G/-A AHCY-02, rs819134, +G/-A AHCY-19, rs819171, +G/-A
BHMT-01, rs585800, +T/-A
BHMT-02, rs567754, +T/-C BHMT-04, rs617219, +C/-A BHMT-08, rs651852, +T/-C
SHMT, rs1979277, +A/-G
Commas seperate, Yasko name, 23andme rs#, Yasko variant (+/-). It is the Yasko variant that one would use to compare to their variant given by 23andme.

http://phoenixrising.me/forums/showthread.php?10973-23andme-genetic-testing/page8

 

[Pea]

Question of the day: How do you find out what gene mutations you have? Will the neurologist test for any of these things, or is this where a naturopath comes in?

and I didn't mean to dismiss those of you mentioning gluten-free diet - I now understand while there are some lab tests that can be done, there are also sensitivities that may not show up on tests, and that's when you need to trial eliminating some foods. I just wanted some of the digestive & B12 tests done to rule out a few variables in his B12 and body adjustment therapy without experimenting or guessing.

There has to be some kind of food sensitivity or allergy - he has this stringy mucousy thing going on too and that is listed as a "symptom" on some of these diseases, but to me, in simplistic terms - the mucous is maybe a sign of a digestive or allergic problem which causes B12 absorption problems, and the lack of B12 is causing the nerve symptoms. Is this too simplistic?

The pharmacist/nutritionist is having him track his urine PH to see if he tends toward acid or alkaline body (tummy is opposite of whatever this is, and you want an acid tummy to help digest the food) - anybody familiar with that?
We're trying to get his body adjusted back to normal function while on the B12 before adding in extra vitamins or minerals as a guess.

Also want to say that while those here differ in your approaches (and how can you notwith all the genetic, nutrition, and other variables, & then add on the prescription meds effects!) it is so hopeful that you are seeing CHANGE in the body, and talking about it & working through it.

I see so many commalities in what you're posting about excitotoxins and cause & effect, more later. Just the use of aspartame and the overuse of proton pump inhibitors alone is going to cause an explosion in neurological disorders in the next few years.

 

[rydra_wong]

Greenshots said this:
Anything that provokes ammonia (protein, B 6) or increases lipids (EFA's), or increases sulfur (NAC, Glut, SAMe, though SAMe isn't as potent as the others so many do well), are probably going to do poorly on these things with a partial of full CBS block. if they have otHer blocks, it's worse. For example, I have the MTHFR A1298c, the CBS, and the NOS so I don't make BH4 to clean anything up but keep pumping out ammonia and sulfites because of the CBS/NOS.

----

I have all those genes plus all the BHT gene defects (3) and all the high blood pressure defects (3), and all the BH4 defects (3 that I was told about). I am seeing a heart doctor but he is out of state so I do not see him enough. If I get schleppy and skip half my vitamins I get extremely high blood pressure, retain enough water to sink a ship, and have a headache and tight chest, like I do now. I did not know that NOS had anything to do with the urea cycle (which you said eariler) (but I knew the BH4 did and I know that Vitamin C and mfolate raise BH4).

I did not know that B6 increases ammonia (and question why this would be?). It is needed by the CBS enzyme, of course. I regulate the CBS enzyme mutation with DHEA, which makes estrogen and testosterone. I read that testosterone affects this enzyme, not sure but the estrogen may as well. The estrogen protects me against glutamate toxicity - I have found it to be true and also found several studies which prove it. I almost died of glutamate toxicity during PMS once.

Because of the hormone fluctuations I had never been able to pin down what my problem was until I had my genes mapped. I actually knew I had a methyl cycle defect before I met Freddd, I had surmised as much from study and observation, but I had no idea its significance. And come to find I have 18 genetic defects in the Yasko panel so it is very much the big problem in my life. Right now I am trying to get water off me and my kidneys are not doing the job. I can't take any supplements that will thicken my blood to help because of the high blood pressure, so I have to get my kidneys to slowly get rid of the water. (Like a 400 caloie a day or less diet with no fat no sugar, pretty much no anything until this clears up). I got this way from missing my supplements and taking too much coffee (would not be too much for anyone else, but was for me). It seems I cannot live w/o my pills anymore.

I know so little because I have so many defects I just short-circuited. There weren't that many studies out when my genes were mapped, but even so it was too much with 18 to research. So I am very interested in any and all new input. I do not normally seem to have trouble with sulfur despite the CBS but I have been on DHEA from the instant my hormones started to wane as I could not function.

So I am wondering about the P5P. I do not take B6 but I take P5P which is very good for the kidneys. I have tried 50 to 200 and I feel no different on either. I can get my homocysteine perfect on 50 so I generally take that. Thanks for all you helpful info.

Rydra

 

[rydra_wong]

I'm no scientist but here's my understanding.
VDR Taq requires methyl B 12 from that MTR/MTRR region in order to make dopamine, immune factors, & Vit D.
If you have a defect, you won't absorb Vit D well and probably won't be trying to take much methyl B 12 from that MTR. But if you start to supplement, and you are absorbing it well, you'll know because you'll sure feel the new onslaught of methyl groups in the system now being used by the MTR. You may have higher vit D levels but transport with the VDR may be less than exemplary. Start taking rosemary, my doc told me about this and what a difference! I tried Yasko's VIT D but couldn't handle it, hers is too potent and works to well so I probably have this defect as well. having this defect allows more methyls because it can't steal away the methyl B 12 from the MTR and there's still the need for it to make dopamine, etc. This is why some react strongly to good Vit Ds.

You said you almost died during PMS and as I understand it, our estrogen dips and glutamate goes up, up, up. However, just because we are women & have estrogen doesn't mean we can protect ourselves completely from glutamate excitotoxicity. We have plenty of hormone ups & downs and there's an area that processes estrogen known as the PEMT enzyme that may be a big factor with women and cancer, autism, seizures, and CFS.

Then you add the typical diet into the equation and you might as well throw in the towel since everything processed is full of MSG but they've found a loophole and can say "no MSG" on their product when it has 10-15 forms of MSG! They call them natural flavors now or hydrolyzed protein (soy, whey, pea, veg, etc) or a million other words, but the hydrolyzed are the worst since they have 3 different Excitotoxins in them along with cancer causing products. We are 70% MSG free in my house but with kid's it's hard not to have treats or crackers for them and anything that tastes good. For it to taste good it has to have at least 4-6 MSG chemicals and usually much more since these are only added to make food taste good so we'll buy it. I have a good understanding of addiction and glutamate receptors hold onto the memory and taste for addiction which is why we crave many products that include these chemicals. The glutamate receptor is where cocaine addiction resides so you can see why these foods become so addicting. This is the reason I limit them whenever possible and take all of those antioxidants and glutamate blockers (mag citrate being excellent). This is one area my doc really got me squared away.

http://autismnti.com/images/Excitotoxins-_Website_version.pdf

This is really interesting, thanks! Who is your doctor? My doctor spend more time on his area of expertise which is the heart with me. It would be very useful to talk to a genetic specialist in my case.

Rydra

 

[Valentijn]

But msg is not a problem. That changed with the mb12.

I do seem less reactive to likely MSG exposure than I was before I started supplementing with folic acid several years ago. But I still avoid it because 1) there is still an unpleasant, albeit milder, reaction, even with folate supplementation and large doses of B12, and 2) I'm still quite sick with ME and don't want to do anything that's putting stress on my body while I'm trying to recover, or at least not get any worse.

 

[greenshots]

Greenshots said this:
Anything that provokes ammonia (protein, B 6) or increases lipids (EFA's), or increases sulfur (NAC, Glut, SAMe, though SAMe isn't as potent as the others so many do well), are probably going to do poorly on these things with a partial of full CBS block. if they have otHer blocks, it's worse. For example, I have the MTHFR A1298c, the CBS, and the NOS so I don't make BH4 to clean anything up but keep pumping out ammonia and sulfites because of the CBS/NOS.

----

I have all those genes plus all the BHT gene defects (3) and all the high blood pressure defects (3), and all the BH4 defects (3 that I was told about). I am seeing a heart doctor but he is out of state so I do not see him enough. If I get schleppy and skip half my vitamins I get extremely high blood pressure, retain enough water to sink a ship, and have a headache and tight chest, like I do now. I did not know that NOS had anything to do with the urea cycle (which you said eariler) (but I knew the BH4 did and I know that Vitamin C and mfolate raise BH4).

I did not know that B6 increases ammonia (and question why this would be?). It is needed by the CBS enzyme, of course. I regulate the CBS enzyme mutation with DHEA, which makes estrogen and testosterone. I read that testosterone affects this enzyme, not sure but the estrogen may as well. The estrogen protects me against glutamate toxicity - I have found it to be true and also found several studies which prove it. I almost died of glutamate toxicity during PMS once.

Because of the hormone fluctuations I had never been able to pin down what my problem was until I had my genes mapped. I actually knew I had a methyl cycle defect before I met Freddd, I had surmised as much from study and observation, but I had no idea its significance. And come to find I have 18 genetic defects in the Yasko panel so it is very much the big problem in my life. Right now I am trying to get water off me and my kidneys are not doing the job. I can't take any supplements that will thicken my blood to help because of the high blood pressure, so I have to get my kidneys to slowly get rid of the water. (Like a 400 caloie a day or less diet with no fat no sugar, pretty much no anything until this clears up). I got this way from missing my supplements and taking too much coffee (would not be too much for anyone else, but was for me). It seems I cannot live w/o my pills anymore.

I know so little because I have so many defects I just short-circuited. There weren't that many studies out when my genes were mapped, but even so it was too much with 18 to research. So I am very interested in any and all new input. I do not normally seem to have trouble with sulfur despite the CBS but I have been on DHEA from the instant my hormones started to wane as I could not function.

So I am wondering about the P5P. I do not take B6 but I take P5P which is very good for the kidneys. I have tried 50 to 200 and I feel no different on either. I can get my homocysteine perfect on 50 so I generally take that. Thanks for all you helpful info.

Rydra

Yasko Quote
I think that once the CBS/ammonia situation is under control then the use of P5P or a B complex with B6 makes sense. The use of B6 until you have CBS under control or if there are bacterial issues is a double edged sword. You need B6 to convert glutamate to GABA, which is an important very positive outcome for the body. You also need B6 for a number of other reactions in the body. However, B6 is also needed for CBS. In addition, when bacteria cause the breakdown of tryptophan one of the intermediates in the breakdown pathway is calming, kynunenate. However B6 will convert kynurenate to quinolinate which is an excitotoxin.

So, once CBS/ammonia is in balance and bacterial triggering of tryptophan breakdown is less of an issue then the use of 1/2 B complex or about 1/2 to 1/4 of your current dose of B6 (or P5P) should be mostly all positives. However, if CBS up regulation and bacterial tryptophan breakdown are still issues then I expect you will find that B6 may start to backfire for you again as it did in the past.

My doc is at:
www.autismnti.com

She always treated adults but originally intended to stick with autism when she opened her own practice. That didn't work since so many of her old patients followed her. Now she works in a private group of naturopaths but also does telemedicine (online) and sees CFS/ME, MS, ALS, Parkinson's, celiac, autism, etc.

 

[Freddd]

I do seem less reactive to likely MSG exposure than I was before I started supplementing with folic acid several years ago. But I still avoid it because 1) there is still an unpleasant, albeit milder, reaction, even with folate supplementation and large doses of B12, and 2) I'm still quite sick with ME and don't want to do anything that's putting stress on my body while I'm trying to recover, or at least not get any worse.

What kind of b12? How large a dose?

 

[rydra_wong]

My doc is at:
www.autismnti.com

.

Thanks! Too bad she is in California. I am going to read her stuff and also possibly see if she can take patients by skype. I take 42 pills a day and I can't stand it so I am falling of the wagon. I need help figuring out how to get the number down to a more reasonable number that won't hurt my stomach or nauseate me. It's a tall order considering my genes, but I have to do it somehow. I'm going to task my heart doctor with the same thing...he's a smart guy and he does know about genes -- he's the one who got me tested -- and of course over time the supplement companies are getting better at putting everything you need in one pill...when I started there was only B Right with folic acid but now I can take Thorbe Basic B and get ALL the basic B's in one pill...but twice a day...and it's not enough mfolate for me. But still it's a step in the right direction.

Thnaks for the info.

Has anyone tried a prescription for BH4? I don't understand something about that...it is presented as to do with ammonia breakdown via the ornithine (urea) cycle. But surely there are other things broken down via that cycle? So is it possible to even pee if you are short of BH4? Cuz I'm not managing to pee right now so I am taking a particular interest.
I don't eat a lot of meat/protein to make ammonia and I'm protected by estrogen from - oh, see? Just talking can help one figure these thinsg out...I am low in magnesium, pretty sure. What glutamate toxicity does is strip magnesium from the NMDA receptors which allows calcium entry when it should not. So I am protected from losing those magnesiums by
estrogen, but it does not mean my body is not looking for magnesiums to grab, which it needs WITH BH4 for the ornithine cycle. I can't really supplement up right now but I'm attempting to dribble in some helpful stuff, slowly, slowly. I have some potassium water but now I'm thinking, no it's magnesium I'm looking for. I hate all these little emergencies I have to constantly stop everything and deal with. I know very little about the ornithine cycle except I remembered it needs magnesium with the BH4. Thanks! Too bad it's Saturday, I'd get a prescription for a water pill.

Rydra

 

[therron]

Freddd and Others,
Freddd, I read one of your posts about CoQ10 causing high blood pressure in the early stages of healing. Bing! I have been hearing my blood pulse through my head since I started ubiquenol. Thanks! Overall, I feel better than a year ago (reduced stress response and GI symptoms, 30% more energy, and no more nightly neuropathy).
Not improved-muscle tightness, insomnia, brain fog, and intermittent brain inflammation. New-jolting electric type shock through my nerve endings at the back of my skull including a numb tongue for 3 days and the inability to focus my eyes for a day. Have appt with neurologist but I know she won't discuss methylation.
Any helpful hints that can be offered would be appreciated. (Confirmed MTHFR 1298 and 677).

MB12 1,000 mcg 1X day AdB12 1/4 tab every 3 days mfolate 400 mcg 2x day TMG 250 mg 2x day A, D3, Douglas B Complex, C, E
Curcurmin, olive leaf extract, cod liver oil l-carnitine f, but I think it's making insomnia worse
Bad experiences with potassium in the past, but am starting again slowly.

 

[greenshots]

Thanks! Too bad she is in California. I am going to read her stuff and also possibly see if she can take patients by skype. I take 42 pills a day and I can't stand it so I am falling of the wagon. I need help figuring out how to get the number down to a more reasonable number that won't hurt my stomach or nauseate me. It's a tall order considering my genes, but I have to do it somehow. I'm going to task my heart doctor with the same thing...he's a smart guy and he does know about genes -- he's the one who got me tested -- and of course over time the supplement companies are getting better at putting everything you need in one pill...when I started there was only B Right with folic acid but now I can take Thorbe Basic B and get ALL the basic B's in one pill...but twice a day...and it's not enough mfolate for me. But still it's a step in the right direction.

Thnaks for the info.

Has anyone tried a prescription for BH4? I don't understand something about that...it is presented as to do with ammonia breakdown via the ornithine (urea) cycle. But surely there are other things broken down via that cycle? So is it possible to even pee if you are short of BH4? Cuz I'm not managing to pee right now so I am taking a particular interest.
I don't eat a lot of meat/protein to make ammonia and I'm protected by estrogen from - oh, see? Just talking can help one figure these thinsg out...I am low in magnesium, pretty sure. What glutamate toxicity does is strip magnesium from the NMDA receptors which allows calcium entry when it should not. So I am protected from losing those magnesiums by
estrogen, but it does not mean my body is not looking for magnesiums to grab, which it needs WITH BH4 for the ornithine cycle. I can't really supplement up right now but I'm attempting to dribble in some helpful stuff, slowly, slowly. I have some potassium water but now I'm thinking, no it's magnesium I'm looking for. I hate all these little emergencies I have to constantly stop everything and deal with. I know very little about the ornithine cycle except I remembered it needs magnesium with the BH4. Thanks! Too bad it's Saturday, I'd get a prescription for a water pill.

Rydra

This is a long Yasko post but I've saved it because it discusses and answers many of your questions regarding CBS, NOS, BH4 and it aso indirectly refers to another post comment you made about SAMe. Since these are my issues too, I know them well but can't speak to individual differences or symptoms. BTW, my doc does do Skype and I know she has some East coast patients since her assistant mentioned it last year when I needed to make my daughter's apt, she had someone from NY since they needed a very early apt and tried to work us in at an unusual time.

To be perfectly honest, if you have the MTHFR A1298c and CBS, you need SAME big time! There is no worry about The SAMe you'd take being converted into HCY at all so I put this post in both areas, just in case you didn't see it in one.


''If an individual has the CBS up regulation (C699T), then they will break
down homocysteine more rapidly. This depletes intermediates in the
methionine cycle as well as making more products from homocysteine.
Homocysteine will be converted to cystathionine. This in turn goes to
produce cysteine plus alpha keto glutarate and AMMONIA. What happens next
depends in part on the level of cysteine. When there are higher doses of
cysteine the body will then convert these intermediates to taurine.
(Taurine can be broken down into AMMONIA by bacteria in the gut.) However
if there are lower amounts of cysteine the body will choose to make
glutathione. So, first of all, the amount of cysteine will help to
determine whether we make glutathione or taurine. (J. Nutr. 133:2697-2702,
September 2003). If we have the CBS C699T we will be creating higher
levels of cysteine (due to enhanced breakdown of homocysteine) so we will
almost always be generating taurine rather than glutathione. While the
temptation may be to add glutathione (due to low glutathione levels), this
can create problems. High levels of certain sulfur byproducts can cause
problems in the body. The CBS up regulation is generating so many sulfur
products that added glutathione may be a problem for these individuals. So
a sensitivity to sulfur products and sulfur containing antibiotics may
also be indicative of this mutation. Molybdenum is used to help to convert
the neurotoxic sulfite to sulfate. This reaction will be heavily taxed in
individuals with CBS C69T + + and so you will often see low levels of
molybdenum in spite of constant supplementation. So individuals with a
homozygous CBS C699T will often have no homocysteine, high levels of
taurine (without supplementation) and low levels of glutathione on a urine
amino acid test, as well as low levels of molybdenum on an essential
element urine test.

What may more be of greater importance is that ?when the need is for
energy, and not for cysteine, homocysteine produced is metabolized by
homocysteine desulfhydrase to alpha KG, NH3 and H2S.?(see series of
articles by Stipanuk, MH). Because we are dealing with mitochondrial
issues in most cases we are energy depleted. Methylation cycle mutations
will compound this energy problem as SAMe is used as a methyl donor for
carnitine and COQ 10, both important energy components of mitochondria.
Due to the enhanced conversion of homocysteine we are constantly depleting
intermediates of the methylation cycle. This includes SAMe (needed in this
case for carnitine and COQ10) as well as methionine. Both methionine and
SAMe are also useful for dealing with ammonia, however due to the CBS
C699T we are generating more ammonia and less methionine and SAME. The
more we supplement (which we need to do) the more ammonia we generate, a
true catch 22.

So AMMONIA is generated as a result of transulfuration when cystathionine
is converted to cysteine, from taurine as well as from alpha KG. Under
ideal conditions ammonia will be absorbed in reactions between glutamine,
glutamate and alpha KG. However, (see slides 113 to 116 from MTHFr, Metals
and Methylation ppt) aluminum interferes with glutamate dehydrogenase and
mercury interferes with glutamine synthase. This impairs the pathways that
are normally used for addressing ammonia. In addition, in some individuals
the GAD enzyme may be impaired as a result of viral infection and
methylation status (discussed in the autism book and in the Boston DVDs).
This will create a possible scenario where excess alpha keto glutarate is
being generated by breakdown of homocysteine but it cannot convert
properly to form ie GABA. However this excess alpha KG can combine with
the excess ammonia to form more glutamate. I have previously discussed at
length the relationship between glutamate, excitotoxins and nerve damage.

The ammonia problem can worsen with viral infection. So for an individual
with the homozygous CBS it is a real catch 22. We need the SAMe and
methionine (and Folapro and Intrinsic B12 for that matter) in order to
have methylation so that we can silence the virus and reduce the viral
load. However, every time we add anything that helps the cycle to flow
properly we end up generating more homocysteine, which flows directly to
make more ammonia and sulfur groups, and taurine. We need to address this
part of the cycle in order to get out of the catch 22 we are in. We are
currently evaluating RNAs that may be helpful to support healthy ammonia
levels.

Ammonia will be converted to urea via the urea cycle. This is an expensive
process from the standpoint of BH4 as it uses two molecules of BH4. So the
conversion of elevated levels of ammonia can quickly drain limited stores
of BH4. This can then impact the levels of serotonin and dopamine. I
believe that this is part of the reason why the combination of a CBS C699T
+ + with the A1298C homozygous mutation (which I believe impacts the
reverse reaction through the MTHFR to generate BH4) can have such a
devastating effect.

You are correct that arginine is a starting point in the urea cycle.
However, I do not believe that arginine is the rate limiting factor here.
I think that BH4 is the rate limiting factor in most cases. Arginine can
stimulate the growth of virus. This has been particularly well studied for
herpes virus. So adding additional arginine may lead to increased growth
of herpes virus and may not help the urea cycle if it is not the rate
limiting factor.

Arginine that is not used by the urea cycle can be used to make
creatinine. So if we can decrease the amount of ammonia that is generated.
Then we are using less BH4 and less arginine in the urea cycle. This will
free up BH4 for serotonin and dopamine. It will also free up arginine for
creatinine.

This is all lovely in theory, but what do we actually see in practice?
When we go to a low protein diet, we observe an increase in creatinine and
an increase in metal excretion. This would suggest that we may be on the
right track in addressing this problem. This is another reason to monitor
urines carefully as it may appear as if behaviors are deteriorating and
that a low protein diet is not working, when in fact this is a result of
increased creatinine and metal excretion. I suspect that some of the
behaviors that have been attributed to yeast (silly behavior following
food) may in fact be high ammonia levels generated as a result of CBS up
regulation. This imbalance in ammonia levels will most likely contribute
to gut imbalances and exacerbate yeast issues.

The good news is that the more we understand what is going on the easier
it is to address it. We are in the process of evaluating the benefits of
low protein diets, RNAs and the possible use of BH4 supplementation to
address these mutations. Each day we move a little bit closer to getting
the necessary answers to know how to address these issues.

With love and hope,
Dr. Amy'

 

[greenshots]

Question of the day: How do you find out what gene mutations you have? Will the neurologist test for any of these things, or is this where a naturopath comes in?

and I didn't mean to dismiss those of you mentioning gluten-free diet - I now understand while there are some lab tests that can be done, there are also sensitivities that may not show up on tests, and that's when you need to trial eliminating some foods. I just wanted some of the digestive & B12 tests done to rule out a few variables in his B12 and body adjustment therapy without experimenting or guessing.

There has to be some kind of food sensitivity or allergy - he has this stringy mucousy thing going on too and that is listed as a "symptom" on some of these diseases, but to me, in simplistic terms - the mucous is maybe a sign of a digestive or allergic problem which causes B12 absorption problems, and the lack of B12 is causing the nerve symptoms. Is this too simplistic?

The pharmacist/nutritionist is having him track his urine PH to see if he tends toward acid or alkaline body (tummy is opposite of whatever this is, and you want an acid tummy to help digest the food) - anybody familiar with that?
We're trying to get his body adjusted back to normal function while on the B12 before adding in extra vitamins or minerals as a guess.

Also want to say that while those here differ in your approaches (and how can you notwith all the genetic, nutrition, and other variables, & then add on the prescription meds effects!) it is so hopeful that you are seeing CHANGE in the body, and talking about it & working through it.

I see so many commalities in what you're posting about excitotoxins and cause & effect, more later. Just the use of aspartame and the overuse of proton pump inhibitors alone is going to cause an explosion in neurological disorders in the next few years.

Pea,

Unfortunately, no one covers the genetic tests were talking about since this is stuff that is fairly new, about 10 years old or so, after the Human Genome Project came out so you could have him get his genes done thru 23&me ($200) but these are not easily figured out when comparing them to the scientist (Yasko) we're discussing who does study this stuff intensively. It's a lotta trial & error and bits & pieces. My doctor tried to correlate them last year for me and only was able to get 3 out of 30 gene typo's done and I know they've worked on it for this site too.

The digestion issues could be too alkaline too and not just too acidic. My doctor had me do a simple test that had me take 1 tspn baking soda in a full glass of water before breakfast. If you burp within a couple minutes, you have too much acid but if you don't, your too alkaline. It's simple enough & worth a shot for quick results. he can easily use digestive enzymes too since that helps so much. I know since I'm type O blood type that we run on the acidic side so if he's O then that's one more circumstantial piece to help.

You're right too that it's a lotta info to sift thru and even though we don't always agree, I think it's beneficial to hash it out together and see what we come up with.

 

[Pea]

Acid/Alkaline
Yes! - when I first went in to get the B12, the nutrio/pharm gal was talking about the acid/alkaline & his gastro issues, and a 2010 lab where is UPH was high, and mentioned he may have been holding ammonia. He started home testing yesterday & was in the middle (6.6 and 6.8) - she was surprised because she thought he would be more acidy-body based on how he is feeling, so there is something not clearing out in his body. He does get more confused/irritable in the evening although that is slowly getting better. I had read about that baking soda test too, we'll have to try that.

Blood type & diet
She had the second part of the nutrition/supplement class yesterday where we got into the blood typing and rec'd a list of which foods to avoid / beneficial! He is an A, and in the meantime yesterday he figured out on his own that he gets much more mucousy when he eats milk & cheese. So we're getting somewhere. Maybe the mucousy has nothing to do with celiac or gluten, and I need to keep it simple for now, as I think some of you have been trying to tell me!

[One thing that stuck in my mind when reading about ALS, which I don't do any longer, is that they have thick mucous & often choke on it; I was thinking why do they have this mucous - are they predisposed to this (celiac) and That & subsequent B12 deficiency causes the ALS "symptoms" rather than how 'they' say that the ALS is "causing" thick mucous.] Plus he has seborriah keratosis flare-ups (mentioned in celiac) but maybe that is also just something he's eating (dairy, other) that causes inflammation.

Got some basic labs back from 1.5 weeks ago (they refused to do B12) but -
Sodium & chloride are low (they have been for several years, dehydration? He's really upped his water now)
Bicarbonate was 34 (H) - this is a new test for him (baking soda!) - body a little too alkaline? At that time, anyway
Anion Gap 6 (L) (same in Nov. 11)

Neutrophil percent - 70% (highish end) - what would this indicate? The body thinks there is an infection/inflammation?
In November the AbsNeutr was 4.5. Is this part of the body balancing act, or something to be concerned about?

The RBC, MCV, and platelets were a little better than they have been, so staying off the Prilosec, starting the Centrum again, and returning to a variety of foods was already helping. These labs were 2 days before B12 was started.

This Wed. he is getting CBC and B12 just to see where we're at. Then review this & PH tracking with nutrio/pharm to tweak his therapy - adjusting the B12/folic and adding supplements. Just wondered if anything stands out to you all that I should mention to her, although she really seems to get this stuff.

 

[adreno]

I forgot something kind of important though since the MTHFR A1298C also regulates SAM somehow, in the folate cycle, so those with that defect need more SAMe and usually do pretty well on it. If you read some of the stuff my doctor's done on this, it will be obvious I've stolen her analogies and made some of them much, much shorter but I seem to stick the ones in my brain that strike a chord with me the best and further shorten up the others. I think this stuff is hard enough as it is so doing whatever you can to remember it is what matters!

I also looked it up today since CBS didn't look right the way I had it & its totally wrong since its Cystathionine beta synthase and this upregulation converts the methylation products into Taurine first (instead of glutathione) and then to ammonia or sulfites, so its a big reason we have lousy immune systems and more oxidative stress since it drains more of that chemical, BH4 much faster & making more waste to be cleaned up and cause free radical damage.

I'm pretty sure my doctor or Dr. Vank could give you a much better run down than I did since they know the fancier terms (and know how to pronounce & probably spell them!)but I always liked having the bottom line first and then diving in for more.

Below are the only things I have on the genes as they relate to Yasko and the place I had my SNPs done, 23&me because my doctor was trying to figure out which ones I had since I can't do the Yasko ones with 3 kids, 2 of them being on this crazy protocol. She figured out 3 or 4 of them but couldn't get farther and it didn't mean anything to me at all but maybe this will help you.

Angela




Cheat Sheet for 23andMe and Yasko found via a websearch @ Phoenix Rising

Gene Yasko
Name Yasko
normal 23andMe
Name 23andMe
normal
COMT V158M G(-) rs4680
G (plus)
COMT H62H C(-) rs4633
C (plus)
COMT 61 G(-) rs769224
G (plus)
VDR Taq T(+) (rs731236)
VDR Fok rs10735810 ?

MAO-A R297R G(-) T(+) rs6323
G (plus)
ACAT 1-02 A(+) N/A
ACE Del16 I(-) rs1799752
I (plus)
MTHFR C677T C(-) T(+) rs1801133
G (minus)
MTHFR 3 C(-) N/A
MTHFR A1298C A(-) rs1801131
T (minus)
MTR A2756G A(-) rs1805087
A (plus)
MTRR A66G A(-) rs1801394
A (plus)
MTRR H595Y C(-) rs10380
C (plus)
MTRR K350A A(-) rs162036?
A (plus)
MTRR R415T C(-) rs2287780?
C (plus)
MTRR S257T T(-) (rs2303080) ?
MTRR 11 G(-) N/A
BHMT 1 (-) rs492842? ?
(minus)
BHMT 2 C(-) rs6894156?
C (plus)
BHMT 4 (-) rs6875201 or
rs379754 (plus)

BHMT 8 T(+) rs3797546 or
rs567754
(plus)
(plus)
AHCY 1 A(-) N/A
AHCY 2 T(-) rs1205357
(plus)
AHCY 19 A(-) N/A
CBS C699T C(-) rs234706
(plus)
CBS A360A C(-) T(+) (rs1801181)
SUOX S370S (-) N/A
SHMT C1420T G(-) (rs1979277) ?
NOS D298E (-) rs1799983 ?
(plus)

***23andMe has consistently not had at least 8-10 of the 30 Snips on Yaskos panel: SUOX, ACAT, AHCY 1 & 19, VDR Fok, MTRR S257T, MTR 11, MTHFR 3 and it appears that they no longer carry the SHMT or NOS based on what I could decipher with other's results. I Will have to double check this later. It also looks as though 23andMe have dropped some of the BHMT snips so not good if so. Strange too since there is so much work out there on the MTHFR 3 & NOS with regard to heart disease.

Note to self, this is a posting I found dated 8-1-2011 on the website ''Phoenix Rising'', a CFS/ME site where Rich helps out so I will have to ask him about progress on this toward the end of the year in the event they truly crack the code.

For a conversion, it is helpful to know that as far as call letters go, G=C and A=T
So some SNP's on Yaskos testing might be listed using C or T and 23andME uses A and G.
For example, Yaskos CBS A360A, (rs1801181) is +T/-C, whereas 23andme result is a GG, which translates to CC, remember, G=C and T=A. So translated to CC and C is '-' in Yasko variant, then the 23andme would read as -/- or normal.
In Yasko-speak:
A '-' means you have the 'normal' genetic variant A '+' means you may have issues with that enzyme
A '+/+ is abnormal A '+/- is one you may still want to pay attention to and may derive benefit from supplementation A '-/-' is normal

Here is a list in which correlates the 23andme rs#s with Dr. Yasko's references.
Out of the 32 SNP's Dr. Yasko tests for in the methylation cycle, 23andme gave me 26 out of the 32. The six I got a 'no call or no result' are in blue, but the info still in that line is correct for others to use. I don't know if these six will be across the board for everyone. I do know there are some of which were discussed somewhere around here.
ACE Del16, rs1799754, +D/-l
CBS A360A, rs1801181, +T/-C CBS Y233Y (C699T), rs234706, +A/-G
COMT (H62H), rs4633, +T/-C COMT (V158M), rs4680, +A/-G COMT (L136L), rs4618, +C/-G COMT -61 (P199P), rs769224, +A/-G
MAO-A (R297R), rs6323, +T/-G MTHFR A222V (C677T), rs1801133, +T/-C

MTHFR E429A (A1298C), rs1801131, +C/-A MTHFR P39P, rs2066470, +T/-C
MTR A9196 or A27566, rs1805087, +G/-A
MTRR H595Y, rs10380, +T/-C MTRR K350A, rs162036, +G/-A MTRR S257T, rs2303080, +A/-T MTRR A9196G (A66G), rs1801394, +G/-A MTRR A664A, rs1802059, +A/-G
NOS D298E (G894T), rs1799983, +T/-G
SUOX S370S, no rs#, +C/-T SOUX A628G, rs7297662, +G/-A
VDR Bsm/Taq, rs1544410, +A/-G VDR fok1, rs10735810, +T/-C
ACAT-02, rs3741049, +T/-C
AHCY-01, rs819147, +G/-A AHCY-02, rs819134, +G/-A AHCY-19, rs819171, +G/-A
BHMT-01, rs585800, +T/-A
BHMT-02, rs567754, +T/-C BHMT-04, rs617219, +C/-A BHMT-08, rs651852, +T/-C
SHMT, rs1979277, +A/-G
Commas seperate, Yasko name, 23andme rs#, Yasko variant (+/-). It is the Yasko variant that one would use to compare to their variant given by 23andme.

http://phoenixrising.me/forums/showthread.php?10973-23andme-genetic-testing/page8

Thank you for this; I'm trying to get it through the fog :Retro tongue:

As far as I can see from my 23andme data, I'm heterozygous (+/-) in most of those SNPs. So do I worry or not?

MAO-A is homozygous for me (+), so there's an indication of some problem. Would that indicate too low MAO-A activity, or too high?

WRT MTHFR, there really is a bunch of SNPs so it's hard to make sense of. Most of mine are heterozygous, with a few homozygous ones (A1298C is -/-, but A66G is +/+).

Any thoughts?

 

[greenshots]

Regarding the SNPs, a partial block can be helpful (COMT) or harmful (MTR/MTRR, CBS) so if you have many of them, methylation desn't work nearly as efficiently.

I don't know a lot about the MAO but here's a Yasko post
Dear Erin,

 

You may want to post this to clarify some issues regarding maoA and the way that particular SNP associates and the results that we see.

 

I do know that we rarely have an individual who is maoA - -. That is actually what I am and I have been looking for those who are also maoA - - and it almost never seen. Also maoA does not seem to associate as you would predict. The pattern of inheritance is not as expected based on independent association. Generally , we are finding that the majority of individuals are in fact maoA + +, and most of these are males. Remember that the + or - designation is relative to a database norm.

 

Is it possible that maoA + + really means a lack of maoA and that maoA - - means the presence of two copies and maoA + - means one of each? Totally possible as again, + and - are purely relative to a database norm (see prior posts on this)


 

What is most important, and what I do know from my own personal experience as well as supplementing individuals and looking at in the range of 5000 tests now...those who are maoA + + on this test tend to do better with low dose support that can include mood S and 5 HTP given in low doses more frequently. High dose is not ideal as maoA will feed back and inhibit itself. Those who have bacterial issues and higher levels of 5HIAA or higher kynurenic or quinolinic also do better with support with mood S, 5HTP and niacinamide. Aggression support can also be really helpful due to the tie in between histamine, serotonin, bradykinin and aggression discussed at the last conference during the stress and aggression PPT.

 

So, we need to realize and keep in mind that in a sense the + or - designations are arbritrary in that they are only in comparison to a database standard. What is more important is the call letter and the type of support that has been determined to be helpful based on experience with these particular SNPs.

 

As one of the few maoA - - individuals I can tell you that I do not do well with any mood S or with 5HTP or even turkey (high in tryptophan). I tend to stay very, very even tempered and I suspect that my serotonin levels also tend to stay in balance with no support at all. I hope this helps!!

 

WIth love and hope and a hug,

Dr.Amy

 

[adreno]

Regarding the SNPs, a partial block can be helpful (COMT) or harmful (MTR/MTRR, CBS) so if you have many of them, methylation desn't work nearly as efficiently.

Thanks. So what you're saying is that a heterozygous SNP (+/-) is considered a partial block? And so, when I'm +/- in C699T for example, that would mean I have some problem clearing ammonia?

Hmm. I'm actually supplementing taurine. Sounds like this is a bad idea! Looks like I need molybdenum and SAM-e. I respond very positively to SAM-e, but unfortunately my stomach doesn't handle it well. Could I use TMG? I remember having a very positive response to this is the past.

I also wonder whether taking ALA is a good idea with a partial CBS block? My A1298C is normal, so that should help some.

Since I also have some heterozygous SNPs in MTR/MTHFR, as I understand I it, I should need both mb12 and methylfolate in rather larger doses than normal, am I right?

 

[adreno]

I did not know that B6 increases ammonia (and question why this would be?). It is needed by the CBS enzyme, of course. I regulate the CBS enzyme mutation with DHEA, which makes estrogen and testosterone. I read that testosterone affects this enzyme, not sure but the estrogen may as well. The estrogen protects me against glutamate toxicity - I have found it to be true and also found several studies which prove it. I almost died of glutamate toxicity during PMS once.

You use DHEA to regulate CBS? Can you expand on this? How does that work? I believe my DHEA is quite low.

I am also a stoe former like you. Seems we have some things in common.

 

[greenshots]

Thanks. So what you're saying is that a heterozygous SNP (+/-) is considered a partial block? And so, when I'm +/- in C699T for example, that would mean I have some problem clearing ammonia?

Hmm. I'm actually supplementing taurine. Sounds like this is a bad idea! Looks like I need molybdenum and SAM-e. I respond very positively to SAM-e, but unfortunately my stomach doesn't handle it well. Could I use TMG? I remember having a very positive response to this is the past.

I also wonder whether taking ALA is a good idea with a partial CBS block? My A1298C is normal, so that should help some.

Since I also have some heterozygous SNPs in MTR/MTHFR, as I understand I it, I should need both mb12 and methylfolate in rather larger doses than normal, am I right?

Yes, these are partial blocks so it usually means they are down regulations and don't clear or produce well but some, like the CBS, are up regulations which means they dump everything out of the cycle and turn much of it into ammonia &sulfites.

This is how my doctor explained them to me:

Think of the SNPs as a bucket brigade (fires) and each step is important to get the fire out. When a man is down because of smoke inhalation and can't work, it's a full mutation. Now the fire is out of hand until others can compensate for this loss. When a man hurts his back and isn't able to hold the heavy buckets so well so slops them all over the place before getting a 1/4 to 1/2 bucket to the next guy, it's a partial. You have function but depending on how hurt he is, you may have very little. if he's getting smoke inhalation too (lead, aluminum, mercury exposure damages SNPs) then he may not work at all despite being just partially injured.

This is often heavy but she explains these concepts in her webisodes
I remember watching them hundreds of times when my daughter was so sick but now I can't stand hearing them!

http://www.dramyyasko.com/resources/webisodes/methylation-why-you-should-be-concerne/