Vitamin B-9 and MTHFR variants


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?


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?

Inclusion Criteria

Please no participants with known vitamin B deficiences, anyone not able to follow the outlined vitamin protocol, or anyone who might have health problems related to high homocysteine levels.

Day 1: Submit your personal genomic data on the specified MTHFR variants (handled on joining study)

Day 1: No Vitamin B supplements for 1 week

To establish a washout baseline, take no supplements containing vitamin B for a week.
Repeat every day, ending after 7 occurrences.

Day 8: Homocysteine Blood Test

Obtain a test for serum homocysteine in the blood.



  • Check out the FAQ / informed consent (in development), and sign off on it.
  • Submit data on MTHFR variants.
  • Participate in at least 3 different 2 week trials, involving taking over-the-counter vitamins, then measuring homocysteine levels with a blood draw each time (blood tests cost about $70 each).
  • Record your blood test data here



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There has been a lot of buzz on some of the Facebook support groups (LDN, Fibromyalgia, ME/CFS, MS, Lyme, etc.) about the fact that so many people are testing positive for MTHFR and also having these diseases. Would there be any chance of asking this question to the participants? I heard of one study for chronic Lyme that out of 200 subjects 198 had the mutation.

posted by lisaacso

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gotnospice Not sure if I should join, what genotypes for rs1801133 and 31 should I have to be able to join, or to have to worry?


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jwrourke sorry but I would need sponsorship on this study


yaneverknow There is no way I could get my doctor to agree to this, so please remove me as a participant. I should have checked the requirements first.


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dschutz1 I am homozygous for rs1801131 (MTHFR A1298C), but negative for rs1801133 (MTHFR C677T) so I'm not sure if I qualify as a participant.


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2.718 I do not have 23andMe data, but I have been tested for MTHFR mutations with a specific pathology lab test. Result: I am heterozygous for the C677T mutation.


2.718 before any supplementation my homocysteine was at 15umol/L. Supplementation with MegaFol5 (5mg/day folic acid) brough homocysteine down to 10umol/L. Since this is unreasonably high for that level of supplementation, I did my own research and started supplementing with 2*1mg/day 5-MTHF and 2*1g/day TMG. This brought homocysteine down to 7umol/L. The genetic test was done after this result and came back with the "heterozygous for the C677T mutation" result.


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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.

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