MTHFR

Methylenetetrahydrofolate reductase (MTHFR), is an enzyme[1] related to the methyl cycle involved in B vitamins. Many people have variations (usually harmless) in the MTHFR gene.

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Role in health conditions

Mutations in the MTHFR gene have been proposed to be linked to everything from autism to nerve pain to leukemia.[2] Some early studies suggested that people with certain diseases had MTHFR variants, only for researchers to discover that the variants were just as common in healthy people.[3] Many of these proposals nowadays come from naturopaths and quacks, based completely on anecdotal evidence.[4]

In most cases, however, people with MTHFR variants just need a little extra vitamin B.[5] Their levels of homocysteiene may be average or above average. An above-average level may put them at higher risk for a few health conditions.[6]

Unclear associations

Research is not yet clear on whether people with MTHFR variants are at higher risk of heart disease, blood clots, cancer, and other conditions.[7]

Neural tube defects

Children of people with two C677T variants are at 0.14% risk that they will have a neural tube defect. A folate supplement will reduce this risk.[8] If neural tube defects run in the family, prospective parents can consult a doctor about an appropriate supplement.

Homocystinuria

Homocystinuria is a rare condition related to impaired metabolism of folate (vitamin B9) due to MTHFR enzyme deficiency. It is present from birth and can be treated with supplements. Symptoms include (from most to least common):[9]

  • Developmental delay and intellectual disability
  • Low muscle tone
  • Seizures
  • Failure to thrive
  • Abnormal blood clotting
  • Microcephaly (small head)
  • Ataxia (poor coordination)
  • Peripheral neuropathy (numbness, tingling, or pain in the hands and feet)

Pseudoscience
See the main article on this topic: Pseudoscience

Scam artists encourage people to test for MTHFR variants and send their genetic information to the scammer. Then, the scammer can find things that are "wrong" with the person and sell them supplements, restrictive diets, and other "solutions". However, experts consider MTHFR testing to be unnecessary, except in unique cases,[10] and some have gone so far to recommend against it so that patients do not waste their time.[11][12]

The supplements they sell may not be safe, either. Taking too much folic acid may increase the risk and severity of cancer.[13]

MTHFR and vaccines

Despite rumors, children with MTHFR variations can be vaccinated normally.[14]

Fake autism cures

Researchers are still cautious about whether there is a meaningful link between polymorphism in the MTHFR gene and autism.[15][16] Yet charlatans have charged on ahead to sell fake autism cures claiming to be related to MTHFR. These "cures" can cost thousands of dollars, and they give families false hope of changing their children (instead of just accepting that their kid is autistic).[17]

gollark: HBD would just be HBMud with extra steps.
gollark: Hmm. Well, you don't want to do much with HBMUD for whatever reason, so, hmmmm... what previous projects have you found cool™?
gollark: Minoteaur is highly advanced*.
gollark: Minoteaur? No.
gollark: What if helloboi minoteaur™, inevitably?

See also

References
  1. https://ghr.nlm.nih.gov/gene/MTHFR
  2. What You Need to Know About the MTHFR Gene
  3. Why Anti-vax Doctors Are Ordering 23andMe Tests
  4. Dubious MTHFR genetic mutation testing
  5. What You Need to Know About the MTHFR Gene
  6. MTHFR gene variant
  7. Our Take On The MTHFR Gene - 23andMe
  8. MTHFR gene variant
  9. Homocystinuria due to MTHFR deficiency
  10. Dubious MTHFR genetic mutation testing
  11. How Your Genetic Sequence Can Be Exploited By The Supplement Industry
  12. [https://www.acmg.net/docs/MTHFR_gim2012165a_Feb2013.pdf ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing] (PDF)
  13. How Your Genetic Sequence Can Be Exploited By The Supplement Industry
  14. MTHFR gene mutations are the root of all health problems – and vaccines
  15. MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders
  16. Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis.
  17. Autism cures promised by DNA testers belied by regulators
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