MTHFR Research

by on January 27, 2012 in Research

MTHFR research is growing at an exponential rate.

Currently, there are 4482 research articles on MTHFR as of February 3, 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 Aa: MTHFR and Recurrent Pregnancy Loss

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

Section A: 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

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 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

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

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).

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4 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:

    http://www.defeatautismyesterday.com/drvinitskypaper.htm

    http://forums.phoenixrising.me/showthread.php?4254-Comments-on-the-Vinitsky-protocol (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….)

    http://planetthrive.com/2009/06/glutathione-depletion%E2%80%94methylation-cycle-block-hypothesis-the-simple-approach/ This is Rich Van K’s suggestions from his in-depth research on CFS/Fibromyalgia, etc.

    http://www.prohealth.com/library/showarticle.cfm?libid=8023 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.

    http://findarticles.com/p/articles/mi_7396/is_312/ai_n32103066/

    http://www.klinghardtacademy.com/Protocols/Dr-Klinghardt-on-Autism.html

    http://planetthrive.com/2009/06/pall-noonoo-protocol/ 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!!!

    http://bipolarodyssey.com/OHM.htm “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.

  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 (http://stevemark122000.hubpages.com/hub/Proleif—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,
    Stacey

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