MTHFR Mutation

What do you know about the genetic mutation known as MTHFR. I just found out I have it. The way I understand it, this particular mutation does not enable me to mfg B6, Folic Acid or B12 which in turn is supposed to keep homocysteine levels low. The genetic mutation usually means the homocysteine levels are high which can lead to vascular problems like stroke.

Some dr.'s whose patients have this prescribe a prescription for these vitamins. I think it is known as Folgard. To get the "normal" amount of B vitamins, you have to consume 2000 times more than the RDA--or something like that.

My dr. just told me to eat a balanced diet.

Methylenetetrahydofolate Reductase MTHFR mutations are fairly common.

MTHFR is an enzyme responsible for folate metabolism, converting 5,10 methylenetetrahydofolate to 5, methyltetrahydrofolate. Folate is a cofactor in the remethylation (recycling) of homocystein.

Without remethylation, homocystein levels increase.

MTHFR mutations can happen at one of 2 sites within the gene. A C to T transition at base pair 677 substitutes the amino acid alanine with a valine. Another possible mutation is an A to C substitution of a glutamine for an alanine at base pair 1298.

To have any affect on homocystein levels, the mutation must be homozygous i.e 2 genes, coming from both mother and father. Almost half of the population has a single heterozygous mutation and is nothing abnormal. The heterozygous MTHFR mutation (= 1 "abnormal" gene) does not lead to increased homocysteine levels. It is the homozygous MTHFR mutation (2 "abnormal" genes) that is associated with higher homocysteine levels. Not all patients with an MTHFR mutation suffer from raised homocysteine levels. Usually a fasting homocysteine level is done to evaluate therapeutic requirements.

Google MTHFR Mutation and you'll get substantial amounts of imformation.


Hi Steve,

Thanks for that explanation. It makes more sense than many of the articles dense in medical terminology I've tried to read on google. Wading through all the medical terms, etc..is like reading a foreign language. It's difficult to understand for someone who doesn't have a science background.

Regarding MTHFR, I have both A1298C & C677T however my homocysteine level was low range. Perhaps the fact that I was already taking folate, B12 & B6 have thrown the test results off?

I'd been taking these on my own, not because of suspecting MTHFR, but because a B12 test was low normal. I supplemented with sublingual B12 and added the folate and B6 on Polly's advice.

You wrote:
>>MTHFR mutations can happen at one of 2 sites within the gene. A C to T transition at base pair 677 substitutes the amino acid alanine with a valine. Another possible mutation is an A to C substitution of a glutamine for an alanine at base pair 1298.>>

One test showed borderline low vanilmandelate. Is this due to 677?

Does 1298 explain why supplementation with glutamine alone or with Branched Chain Aminos or Whey Protein causes a build up of ammonia and affects my brain? Am I unable to break those substances down without additional folate? I've wanted to use glutamine to help repair leaky gut. (Polly posted: The glutamic peptides are absorbed better. . . . Glutamine converts into glutamate in the intestines. This releases ammonia. . . . your body is exposed to additional ammonia and your body is not able to get rid of the additional burden. You need to help it, with things like taurine, citrulline, threonine, AKA, ornithine, arginine.)

You wrote:
>>Not all patients with an MTHFR mutation suffer from raised homocysteine levels.>>

Again, I wonder if the B vitamin supplements threw the test off. If so, it shows they were really working. I was not doing mega-doses by the way.

What are your thoughts about this?


Hi Pace,

Unfortunately I'm not qualified to give you medical advice. You'll need a biochemist to answer most of your questions.

If you'd like a very good reference, contact Meta-Metrix and purchase their excellent book, "Laboratory Evaluations in Molecular Medicine (Nutrients, Toxicants, and Cell Regulators)


Ahhh, come on Steve, take a crack at it. :-)

I realize you can't give medical advice. But can you tell me how things work or might work? If it were you, would you suspect those things I mentioned? Am I on the right track?

I've tried to talk to my dr. about this, but he cannot even acknowledge that this is a problem. I am getting no advice at all.

He has no knowledge of Candida, dysbiosis, or nutrition etc.. He does not accept its existance except in immunocompromised patients. He is as Mainstream as it gets and probably thinks he is doing me a favor encouraging me not to waste my money on supplements. I'm not blaming him at all, it's just that he doesn't have the tools, training or understanding of what I'm dealing with. That's where you come in. You've been to the "dark" side. The side that doesn't exist in my doctor's world. You've made it back. I'm in the dark and need to get back, too.

Pace


Methyl groups (CH3) donated by MTHFR are passed down the chain, via folic acid and B12 to finally convert homocystein to methionine.

As far I can figure out, taking either 5- methyl tetra hydro folate or methyl cobalamine would provide the required methyl groups to convert homocystein to methionine, even in the event that the MTHFR enzyme was below normal levels....so yes, B6, B12 and Folic Acid could well influence the Homocystein result.

Again, I am not a doctor and not qualified to give medical advice. If your Doctor is not comfortable providing this level of biochemical support, you should look for a Doctor who has the required knowledge in this area. Most Doctors specialising in environmental medicine would be familiar with these biochemical pathways. Before seeing a Doctor, explain the problem and ask if he/she would be willing to treat you


I have to jump in here because I have observed that even most alternative doctors arent well versed in something so complex as this issue. I have known of several people including myself that cannot tolerate much glutamine and when it has been shared with alternative docs, they say that this cannnot be possible. There are so many chemical reactions that occur in the body and this is why different people can take a supplement and not have problems where someone else takes it and they do. It is very hard to get clear cut answeres to test results(I have found) and then after you pay to have tests done,it is hard to get an answer on how to treat something.
It is thru the collective efforts and personal research from members on this board where I have learned the most.


Thanks Steve and Liz,

I greatly appreciate your help. Thanks Steve for the explanation of what possibly might happen.

Liz, you are exactly right. It is tough getting adequate treatment. You hit the proverbial nail on the head, and it's been my experience exactly. I've found more specific help here at the forum through the collective research than through my doctors.

Speaking of doctors, I just sat down and listed out the number of doctors I've sought for help since getting sick--20 years ago. It surprised even me to learn that the list came to 18 doctors, 2 alternative dentists and 1 nutritionist. The list includes 4 environmental doctors. It's not for a lack of trying. I've called in advance and spoken to the doctors. Most have assured me that they can help me. I had one doctor tell me I knew more about the issue (mecury, dysbiosis & glutamine) than he did.

Recently I saw a highly recommended alternative doctor for mercury chelation. He completely dismissed my concerns about the mercury re-distribution possibility. He also was greatly puzzled when I inquired about the glutamine/ammonia issue.

What is a patient to do?



I have also seen around fifteen doctors, five of them been alternative, specialising in environmental illness, plus two dentists and a nutritiionist. Like Pace, i have spoken to them on the telephone prior to making an appointment and long journey, they all give me the hope they will be able to get to the bottom of the problem and say they only deal with the tough cases, but when it boils down to it they all seem to have their own individual *pet* treatment that they favour, when this doesnt work or is inappropriate, its like you say they lose intrest. None of them seem to have the know when it comes down to isolating the root cause, i suppose its all so complex and we are all different, its probably a matter of treating the problems in the correct order. I too have found the internet and forum most helpfull.

Pace have you considered doing a challenge test for metals using NDF, it might be safer for you than DMSA?

Ann


Hi Ann,

I can see you've had the same frustrating experiences with doctors. Promises, promises. Huge sums of money spent and nothing to show for it. It's tough not to lose patience.

Finding a "good doctor" is easier said than done. I think there is a huge need in this area. It is exactly like you said. They each have there own little formula that works and when it doesn't, they lose interest.

I've never heard of doing a mercury challenge test with NDF. Is that common? Where do you get NDF? Is there a particular doctor who recommends NDF?

Thanks for your help and support. I'm glad you shared your experience.


Hi Pace,

Here is a site about NDF:

www.healthydetox.org/ndf.html

But if you type NDF mercury into google there is lots to read. It even binds to mycotoxins!

Ann