MTHFR Research

MTHFR research is growing at an exponential rate.

Currently, there are 4578 research articles on MTHFR as of May 1, 2012.

Here you will find select articles on MTHFR mutations which further reinforce the fact that MTHFR mutations are to be dealt with – not dismissed.

If you find your physician stating your MTHFR mutation is not playing a role in your health, you may find support here that they are right – or they are wrong. If you find that your physician is wrong, please print out the full research article and bring it to their attention.

NOTE: Research is conflicting on many topics. One paper will support an effect between X and Y while another paper will dispute the relationship. Study design and methods are critical to having accurate and reliable research outcomes. The papers below have not been fully evaluated by Dr Lynch on study design and methods.

Section A: MTHFR and Recurrent Pregnancy Loss

  1. Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations

Section A1: MTHFR C677T Mutations

  1. Hypertension in Homozygous C677T MTHFR Individuals: Reduction in Systolic and Diastolic Blood Pressure using Riboflavin
  2. Down’s Syndrome Etiology Linked to Mothers with MTHFR C677T Polymorphisms
  3. Down’s Syndrome Etiology Linked to Mothers with MTHFR C667T, MTHFR A1298C, MTR and RFCI
  4. Methotrexate Toxicity in Individuals with C677T MTHFR Polymorphisms
  5. Breast Cancer Risk with BRCA Mutation Combined with MTHFR C677T and/or MTR A2756G Variants: Weak Trend
  6. Deep Venous Thrombosis in Post-Operative Individuals with Homozygous C677T MTHFR Polymorphisms
  7. Colon Cancer Risk Increase with Homozygous C677T Polymorphisms
  8. Colon Cancer Risk Reduction in those with Homozygous C677T when supplemented with methyl donors.
  9. Nitrous Oxide Increases Homocysteine Significantly in those with Homozygous C677T MTHFR Mutations
  10. Atrial Fibrillation Risk Increases with MTHFR C677T MTHFR Mutation and Elevated Homocysteine Levels
  11. Epilepsy: Prevalence of Homozygous MTHFR C677T MTHFR Mutations
  12. Infertility in MTHFR-Deficient Male Mice Is Partially Alleviated by Lifetime Dietary Betaine Supplementation
  13. Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta-analysis
  14. Migraines and C677T MTHFR

Section B: MTHFR A1298C Mutations

  1. ADHD in A1298C MTHFR Polymorphisms: Possible Relationship
  2. Infertility in Homozygous A1298C MTHFR Polymorphisms: Idiopathic Indian Male Infertility
  3. Rheumatoid Arthritis + MTHFR A1298C Polymorphisms Predispose Individuals to Increased Cardiovascular Risk
  4. Turner Syndrome and Homozygous A1298C Polymorphisms: Linked
  5. Elevated Homocysteine in Homozygous A1298C MTHFR Polymorphisms: Indirect Finding (page 38)

Section C: Compound Heterozygous MTHFR Mutations

  1. Congential Heart Disease and Compound Heterozygous MTHFR Mothers: Increase in Newborns with Congential Heart Disease
  2. Deep Venous Thrombosis Risk in Post-Operative Individuals: Increased Risk in Compound Heterozygous MTHFR Individuals
  3. Meningioma and Glioma Incidence Associated with MTHFR Compound Heterozgyous Polymorphisms (and in MTRR 66G)
  4. Association of Polymorphisms in One-Carbon Metabolism Genes and Postmenopausal Breast Cancer Incidence

Section C1: All MTHFR Mutations Discussed

  1. Autism and MTHFR Gene Mutations

Section D: Drug Interactions with MTHFR Mutations

  1. Nitrous Oxide and Homozygous C677T or Homozygous A1298C MTHFR Mutations: Increased Risk
  2. Methotrexate Toxicity in Individuals with C677T MTHFR Polymorphisms
  3. 5-Flurouracil Toxicity in those with C677T MTHFR Mutations
  4. Metformin and Folate and Vitamin B12 Deficiency – An Interaction
  5. Metformin and MTHFR: Increased Homocysteine Levels

Section E: Methylcobalamin

  1. Effect of Cobalamin on the Allergic Response in Mice

Section F: Severe MTHFR Deficiency

  1. Severe MTHFR Deficiency and Infantile Epilepsy

Section H: Histamine and Pregancy Risk (low methylation = high histamine)

  1. Effects of histamine and diamine oxidase activities on pregnancy: a critical review.

Section I: Methylation

  1. Molecular Aspects of Thimerosal-induced Autism
  2. Parkinson’s disease-like effects of S-adenosyl-L-methionine: effects of L-dopa
  3. Alzheimer’s and Methylation

This page will be continually updated by Dr Lynch. Check back often.

Should you have a paper or document you’d like to be referenced here, please visit the Contact Dr Lynch page and you may attach the documentation right there in your message (via the Attachments function).

22 Responses to “MTHFR Research”

  1. Dana November 15, 2014 at 4:54 am #

    I am reaching out to anyone that has any new ideas or research regarding MTHFR compound heterozygous c677t and 1298c positive. My son is no 20yrs old. He has Bilateral Atrophy of the Cerebellum and thinning of the brain stem with some white matter changes. He has been through a horrible battery of testing all types of normal DNA testing with muscle biopsy @ age 10 with no conclusive disorder. He started off with a movement disorder meaning his say left eye would start to tremor, then the right, then his trunk, then his entire body. In the mean time he was alert, oriented x3. I remember taking him to the local ER and during these episodes making him count, tell me his name and ask him my name and he was always on point even when he was young @ age 4-5. he always had developmental delays, was in speech and OP,Pt @ the age of 3. We tried everything. Finally another BAD episode that lasted almost 10hrs of entire body muscle tremors and still awake and oriented we got another MRI that showed Bilateral Atrophy of the Cerebellum and thinning of the Brain stem @ age 7 finally something that was definitive and did show there was a problem. He was given ativan iv 7mg when he was 7 to attempt to stop a seizure the one that lasted 10hrs. We finally said we are taking him home, we did and when he fell asleep it stopped like it usually did but he had hallucinations for 24hrs from the ativan.. Absolutely horrible. He is very functional but is on disability @ age 20. He had a neuropsych eval that said no to driving and working that he cannot function in the work environment. This kid is smart but in a different way. My husband was just recently diagnosed with MTHFR C677t heterozygous positive. We had Brandon tested and found he is Compound heterozygous C677T and 1298C positive. We are wondering if there is more research and what we can do to help him. I also would like to know if i should also be tested. We need help and some answers.

    • Lindy March 20, 2017 at 4:08 am #

      Was your son ever exposed to mold or other toxins? The mold Stachybotrys chartarum is neurotoxic, and detrimental to those with the 1298C/677T compound heterozygous mutation. I hope by now you have provided your son with the appropriate supplements as recommended by Dr. Lynch on this site, especially methyl B12 and folate, as well as looked at other genes as well. Also, with your son’s genetic testing — did the physician perform a FISH test — Flourescent In Situ Hybridization? This would look at his chromosomes to see if there are any abnormalities. If a child has developmental delays, in my opinion (and I’m not a medical physician) the child should be given the FISH test — chromosomal irregularities are more common that most people would think — 1 per 118 (Nielsen & Wohlhert et al, 1991, Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark, Often, these can simply be balanced translocations that don’t express phenotypically.

  2. Dr. Carol Lourie January 19, 2015 at 4:16 am #

    To all of you who are looking for practitioners who are familiar with these types of health issues , please visit the Institute for Functional Medicine website:

    There are practitioners listed there throughout the US who can help you.

    • Sharon Taylor June 2, 2016 at 1:43 pm #

      Dr. Carol Lourie, Yes, Functional Medicine practitioners (are the rest of medical practitioners “dys-functional”?) m ost do have the ability to help. But they are expensive, and do not accept medical insurance in my experience in two different states.

    • Debra Salter, M.D. June 13, 2017 at 2:03 am #

      I am a physician with over 30 years experience, and am board certified in obesity and family medicine. I have a practice dedicated to the nutritional and metabolic treatment of disease and obesity. I also treat leaky gut issues and evaluate for and treat sensitivities that lead to inflammation. I also currently applying for a research grant to explore MTHFR variants and risk of obesity.

      Two questions:

      Do you know anyone who is currently doing this type of research project that might want to work with or speak with someone also interested in this topic?

      How do I become listed on the above mentioned website?

      I appreciate the importance of identifying these genetic polymorphisms when treating and preventing unwanted health issues and am pleased to see the contributors to this site who feel the same.

      Thank you for your time and information.

      • Dr Lynch June 15, 2017 at 2:58 am #

        Hi Debra – Im not sure if anyone is doing a study on this specific topic – I’ve heard about it being related for sure. Being listed on the above website – those requirements are changing and in flux now because we are building a certification course to ensure people get the training they need. It’s a tough area as there are so many moving parts. Right now we require membership and completion of Part 1 and Part 2 courses or attendance at one of our annual conferences. These are available at currently moving from

        A great genetic report to start using on patients is Then you can also join the StrateGene Facebook Group and learn a lot from those discussing it – over 2,000 members. We also have a Dr Ben Lynch Courses group where people interact and continue to learn from each other.

  3. Cheryl Vasiliou October 10, 2015 at 3:03 am #

    Wondered if they do case studies on individuals. Father & brother had “rare” thrombotic blood diseases. My daughters may have from both sides of family. They are researching this.

  4. Cheryl Vasiliou October 10, 2015 at 3:04 am #

    Are there studies on ppl with family histories of mthfr?

  5. Patty November 5, 2015 at 7:25 pm #

    This is what came back from my blood work–Single mutation (A1298C) identified
    Interpretation: This individual is heterozygous for the MTHFR A1298C variant(one copy). I can’t really find much on it. I have struggled with depression / anxiety / fatigue, recurrent pregnancy loss and a lot of the other symptoms you discuss. Is it as serious as the others? Can you point me in the direction of where to find more info or what I can do to help with these symptoms.

  6. Ron November 20, 2015 at 9:05 pm #

    Hello –

    I am looking for information on my MTHFR Gene Mutation. Specifically, I want to know that connection between MTHFR and high Ferritin levels in my lab work and of course suggestions for daily supplemental therapy.

    My specifics are as follows:

    I am Hemochromatosis GenotypR, C282Y gene mutation
    I am Methylenetetrahydrofolate (MTHFR) gene mutation,
    I am both heterozygous for A1298 and heterozygous C677T
    I am positive for DQB1*02 – 1/2 of the DQ2 heterodimer
    I am Celiac Disease risk from HLA DQA/DQB genotype approximately 1:210 (0.5%)
    I am at Celiac Disease risk of 95%
    I am at risk for Hyperhomocysteinemia
    I am at risk for vascular disease
    Fact – C282Y heterozygotes have a higher mean transferrin saturation and ferritin values than normal subjects but rarely develop clinical complications of iron overload.,

    Current Lab Results:
    AST (SGOT) 49 range (0-40)
    ALT (SGPT) 85 range (0-44)
    Total Cholesterol 210 range (100-199)
    LDL 133 range (0-99)
    Vitamin D, 25 Hydroxy 19.0 range (30-100)
    Ferritin 460 range (30-400)
    DHEA Sulfate 92.4 range (48.9-344.2)

    All the information above is from my initial lab that discovered the mutation and the recent lab concerning my blood work.

    Thank you in advance for your insight.

  7. Ron November 22, 2015 at 2:04 pm #

    Hello Dr Lynch –

    Also, do you have the chemical explanation of MTHFR – that demonstrates insufficiency and in some cases like with ferritin oversufficiency. I will be taking chemistry during the next 5 semesters (argh) so I would love to put this on my wall – chemical portrait.

    Thank you
    A Paleo diet guy had it in a video but it was hard to see the whole thing


  8. Hannah Bradford December 29, 2015 at 3:25 pm #

    can you send information on why serum levels of b vitamins are not accurate? and the meaning of elevated serum b6, folate, etc.

  9. Gail November 8, 2016 at 10:51 am #

    Your link to the paper on rheumatoid arthritis brings you to a different research article.

  10. Kassie Evans February 16, 2017 at 6:03 pm #

    I have discovered I am positive for the A1298C mutation, I’m currently pregnant with my second child and was wondering if there is any way to minimize or prevent passing along my gene mutation? I have a 22 month old son who is now going to be tested as well. He had a vaccine reaction/injury when he was 5 months old in regards to not being able to remove the aluminium from his body so I’m thinking this may have something to do with it. Any information would be super helpful!

  11. KEN June 11, 2017 at 10:54 pm #

    statin induced myopathy that has been treated by methotrexate prenisalone privigen [plus intragam ,,,,,,, CAN ANYONE HELP US…….. this has been ongoing for 2 years came off statins in 2012 it layed dorminant until 2 years ago this has been very debilitating for her her ck level on first diagnosis was 3765 its now increasing DOCTORS IN AUSTRALIA HAVE NO IDEAR HOW TO TREAT specialist was not aware of mthfr gene untill i gave her copy this year feb 2017 had gene testing after this THEN IT WAS APPARENT WIFE IS VERY bleep bleep that they have not treated her accordingly ……………………………. THIS IS THE WORST CASE THEY HAVE EVER SEEN….. IF YOU CAN HELP US IN ANYWAY EWE WOULD BE GRATEFUL …….. KEN AND VIV ……… ELIZABETH SOUTH AUSTRALIA

  12. Jasmin Frankhauser January 4, 2018 at 10:57 pm #

    I see a lot about TMG supplements with folinic acid, but nothing on here is mentioned about DMG. Has anyone tried or know the difference? I have twins with ASD.


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