Vitamin B-9 and MTHFR variants

Objective

Do common variations in the MTHFR gene keep vitamin B from working? Can a group of ordinary people come together to find out? And maybe find a treatment?

Description

In the MTHFR gene (methylenetetrahydrofolate reductase), 2 small variations in DNA (SNPs rs1801133/C677T & rs1801131/A1298C) keep vitamin B9 (or folic acid) from being metabolized into its active form (folate).

Without this form of vitamin B, homocysteine may accumulate. This may lead to nutritional deficiencies and symptoms associated with diabetes complications, including vascular damage and nerve damage. This is also associated with blood clots and pregnancy loss.

Up to 60% of people may have some form of MTHFR mutation.

We aim to:

Find people with MTHFR mutations - by collecting genotype data from volunteers who have used genetic testing services.
Try simple interventions - like special vitamin B supplements available over-the-counter.
See if they work - by asking participants to share results from blood tests performed at commercial labs.

Drug companies won't do this type of study -- there's little money to be made in over-the-counter treatments.

But we can. The tools to do this -- to look at genomic information, to measure treatment results, and to analyze the data -- are now cheap or free.

All we need are concerned people who care enough to help. Want to answer this question? Want to help build community and tools that let people take personal charge of their health?

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elvis555 I decided to participate in the discussion instead. I can't really afford the testing required, though the study relates completely to all of my genome variants.

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skyline There is a big difference between the different types of Vitamin B-9. Is this study focused on the synthetic variant - Folic Acid? Some studies have linked folic acid to cancer, and unmetabolized folic acid (that builds up in tissues) to a drop in proliferation of Natural Killer Cells (possibly the cancer link here). To make this study effective you would need to ensure that people are taking the same type of B-9. Ideally you test for the two natural forms of B-9 which have no indication of risks on taking them. These are: - Folinic Acid - Methyl Folate (active form) Results vary significantly by dose also.

ssnash Agreed Skyline. I think that's where my problems lie. My CD57 numbers are in the tank. Homocysteine up. I'm not willing to take folic acid at this point, only L-methylfolate.

ssnash I've recently learned that I'm homozygous for MTHFR C677TT. I'm suffering from arteriosclerosis despite a young age, healthy eating/lifestyle habits and good cholesterol levels. I've just started supplementing with B vitamins and, specifically, L-methylfolate.

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rmurray221 I joined this discussin 7 months ago. I am ineligible to particpate data wise due to definite concers about hesath related to elevated homocystein. Of most concern to me is the effect elevated homocysteine seems to have on neurodegnerative diosders such as alzheimer's and als. My inital homocysteine level was 18.5. I initallly tried mehtyl folate, then adding metl B12. This resulted in levels of around 12. Last I added trimethyl glycine which brought the figure below 10 (my goal). Some confounding factors effecting the study of the snps involved include the status of comt genotype and renal function. I am heterozygous for both rs1801133 GG and rs4680.

gbiggers Very interesting data. Sounds like you may have the start of a hypothesis to test in a follow-on study.

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JonathanOppenheimerMD I'd like to offer homocysteine testing to participants at half the price that LabCorp charges.

gbiggers Let's discuss. You may email be at greg at the company's domain name.

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isa 'm heterozygous A1298C (on 23andme this is called rs1801131 GT) and wildtype C677T (on 23andme this is called rs1801133 GG). I've decided to switch from folic acid to methylfolate. and am willing to follow this study's protocol if one exists. I can't find the actual protocol?

gbiggers Because this was the very first study at Genomera, some of the protocol information is missing in the latest format. Let's see if the organizers can help.

gbiggers Raymond and Melanie, if you reach out to me, we can help get the protocol online here in the right format.

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