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).

12 Responses to “MTHFR Research”

  1. Elizabeth January 31, 2012 at 3:16 pm # Reply

    I have posted in a few places around your blog/website. I have very complex issues with methylation. As an RN and a CN with a love of research and knowledge, I have been doing some research for several years now, with some success in helping myself. I have learned that there are several people doing wonderful things to help those of us who are plagued with these complex problems. I have made other comments elsewhere regarding various tid-bits of information that I have uncovered, and sometimes this seems foreign to you, so I decided to share with you some of my links. I don’t know if you have already found these, or have heard of these others doctors and their on-going research, but knowledge truly is power. In you quest for understanding the complexities of methylation problems, this might be useful: (this is an interesting read as it is another forum where Rich VanKonyenberg (I may have butchered that spelling), a biochemist who has worked with Amy Yasko, comments…. and that is why I included it b/c of his input….) This is Rich Van K’s suggestions from his in-depth research on CFS/Fibromyalgia, etc. Dr. Paul Cheney, a leading authority in CFS, believes that the XMRV virus is a big part of the picture. I do not think he delves into methylation issues. He believes that CFS and its counterparts are the body’s way of compensating — and staying alive. He has interesting insights. I included him b/c of his research and approach, but not necessarily because I buy-into his approach completely. It is his research that indicates CFS pts should not take iron or copper in their supplements. This is an over-view about Dr. Martin Pall and the NO/ONOO correlation in methylation issues. Dr. Pall has written a book about his approach. Interesting that B12 scavenges NO and ‘folic acid’ scavenges aldehydes!!! “Nutrients Quiet the Brain,”

    Do you think it is possible to help someone overcome their methylation issues without knowing all the SNP’s?

    • Dr Ben February 1, 2012 at 3:33 am # Reply

      Elizabeth –

      Thank you for sharing your research.

      Is it possible to overcome methylation issues without knowing SNP’s? Yes I do.

      Will it be harder and run into road blocks or snags and not know why? Yes.

      I’ve worked with a number of clients with significant methylation issues and they got better rather quickly. I simply took a thorough history.

      On the other side, I’ve worked with a few clients who getting better and then cycle backwards again. Is it because of detox reactions, improper protocol or…
      I continue to work with them and we are making changes based upon some pretty clear digestive lab results.

      • Adam October 20, 2013 at 3:40 pm # Reply

        What do you mean by “detox” ???

  2. Stacey February 7, 2012 at 5:00 pm # Reply

    Hi Dr. Ben,
    I have symptoms of rheumatoid arthritis, irregular heartbeat, and lt. breast abnormal growth/lumps, and horrible barometric pressure (“weather”) related headaches. I have an appointment with my doc tomorrow, and I want to share information with her regarding my MTHFR homozygous C677T mutation- do you have a basic overview that I can share with her that will make her understand what the mutation means? She has no experience with this. She has been my doctor for 20years, but I am well aware that I do need to shift to a doctor who has some background knowledge. I have not found one in my area yet (I checked your links). My hematologist’s response to the MTHFR dx was that it’s not a problem yet, but we will monitor homocysteine levels and once those become high then we will get a cardiologist involved. Then he proceeded to fully discharge me with no yearly follow-up to monitor. SMH. He told me to take a B and folic acid supplement, lose weight, and I would be fine. I have not gone on any supplements as of yet, but I want to order some today. Please tell me what you suggest for homo C677T, 37yr old female (4 kids, no planned future pregnancies). ALSO, what test would be done to measure hormone levels? At one point I used Arbonne’s prolief (—A-Progesterone-Cream-Review), but I stopped after my MTHFR dx because I was so frightened to take anything. I am currently on no meds.
    I should add that I also have storage pool defect- a bleeding disorder. So things that thin blood may be harmful.
    I anticipate that my doc will order a standard blood panel (cholesterol, blood glucose, etc) and also a thyroid check. I have been absolutely exhausted all day every day. Any other tests I might suggest to her? She is traditional in her medicinal approach, but sometimes she allows me to give my 2 cents. ;-)
    Once I know what’s going on I plan on doing a consult with you.
    Best regards and thanks for this site,

  3. Angie September 25, 2012 at 4:52 pm # Reply

    Need Help. I am 39 y/o mother of 3 seemingly healthy boys. I was diagnosed with MTHFR A-1298C mutation-heterozygous when I was pregnant with my 3rd child in late 2008. My first pregnancy was normal/full term natural. Second & Third pregnancy I bled the entire prenancy & had Placenta abruptions. 2 nd pregnancy water broke at 61/2 mos so I stayed in hospital with water broke for a month then they induced labor and I had natural birth of a premie. 3rd pregnancy I had a doc who knew about MTHFR (DR EINHAUS/EINHAUS GROUP/FORT WAYNE, IN) she tested me & determined I was MTHFR. I had to give myself daily injections into my stomach blood thinner & also take aspirin daily. I was loosing so much blood at 7 months she had to induce labor and I again had natural birth. Although my last two children were premies I am just very thankful all 3 boys are healthy. Since my 3rd pregnancy though I just haven’t been able to “bounce back” to being healthy again. (Please note: I was also a smoker, but never picked it back up again after the birth of my third child like I did with the others) From the beginning my uterus didn’t want to shrink back to normal size (doc called it a “Boggy uterus”). I have had what I call “bouts” of deep muscle pain that is debilitating. It is mostly in my hands, feet, knees & back. I am also Chronically fatigued…literally cannot funtion. Brain Fog is BAD….feel like I have demensia. Cannot think of words that I want to say or even sales pitches I’ve made hundreds of times over. I am becoming totally opposite to the outgoing person I used to be. Some other minor complaints are sores on my tongue, dry eyes(esp left), hair loss, water retention, body temperature isssues, skin sores that won’t heal,low immune system, stomache distention, weight gain, intolerance to hot/cold. My blood often come back I am Iron & Vit D deficient. I usually have High SED Rates & Inflammation markers as well. In the last year I’ve had pnemonia, mono (pos for epstien Barr), Sleep Apnea (which I really don’t think I have), digenerative disc disease, osteo Arthritis, Plantar Fasciatis, I am currently in a cast because my plantar tendon where it attaches to the heal torn away, I am also recently diagnosed by an Endrocrinologist with Underactive thyriod and put on bioidentical T3/T4, Estogen dominance and told to use progesterone/testosterone cream, non funtioning pituitary give myself daily injections of Genotropin human growth hormone. All the while being bounced around from Family Doctor to Rhuematologist, to Nuerologist, to Edrocrinologist and when I bring UP my MTHFR NOT ONE of these Doctors will address it. It most certainly is all connected. Outside of the above stated Endrocrinology meds I take I also take a variety of Standard Process whole food vitamins daily (Catalyn, Cataplex B, E-Manganese, Calcium Latate, Symplex F, Drenamin, Ligaplex I, Promaline Iodine, Folic Acid B12), ferro food, as well as Zinc, Maca Root, Fish Oil, & aspirin. Am I killing myself somehow with what I am currently doing? I know I am Medically bankrupt but Am I just slowly dieing or is there SOMETHING I CAN DO??? I am in a race for my mind. Your help is appreciated more than you’ll ever know.

    • Suzanne March 13, 2013 at 3:31 am # Reply


      Can you go back to your OB who handled your second pregnancy and who knew about MTHFR? She could probably at least offer you a good referral. I’ve just learned that I’m homozygous for MTHFR A677TT.

      My new doctor who tested for MTHFR thinks that a prolonged case of untreated Lyme pushed me into a weakened immune state.

      My theory is that because of my weakened state/and/or MTHFR folic acid is essentially toxic to me at this point. I’ve started supplementing with L-mehtylfolate (thanks Dr. Ben) and I’m cutting out supplements with anything more than minimal folic acid amounts and watching my intake of fortified grains. I’ve eaten a healthy, vegetable filled diet for years.

      I’ve had some of the issues you mentioned after a gap of 2.5 years between finding an engorged tick in 2008 and “flu” with later accompanying knee pain, joint issues, brain fog, etc. and finally in 2010 I got treatment with antibiotics for 5 weeks.

      But after feeling better for about a year I began to slide into other health problems: always cold, esp. hands and feet, joints soreness/weakness, sores on my face that won’t heal (my dermo. had NO idea what they were) extreme urinary/uterine pain (my Gyn even felt the swollen tissue but radiologist found nothing, thankfully it faded away 4 months later) and I’ve had a wheezing in my right lower lung for 2 years.

      I had great pregnancies in 1999 – 2005 (I used to joke that I felt better pregnant than not) and great health for years. Ever since the Lyme, though, it has been mostly not great. I’ve had some lessening of the joint pain and weakness this last month and my face is starting to heal. I’m hearing increased wheezing in my lung and am extremely tired, generally, though, I feel some improvement. I am hopeful.

    • Margaret. Smith December 7, 2014 at 5:09 pm # Reply

      I had similar issues and was helped by homeopathic ferrum phos 30 c from health food store

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

    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.

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

    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.


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