MTHFR

Methylenetetrahydrofolate reductase (MTHFR), is an enzymehttps://ghr.nlm.nih.gov/gene/MTHFR related to the methyl cycle involved in B vitamins. Many people have variations (usually harmless) in the MTHFR gene.
==Role in health conditions==
Mutations in the MTHFR gene have been proposed to be linked to everything from autism to nerve pain to leukemia.What You Need to Know About the MTHFR Gene 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.Why Anti-vax Doctors Are Ordering 23andMe Tests Many of these proposals nowadays come from naturopaths and quacks, based completely on anecdotal evidence.Dubious MTHFR genetic mutation testing
In most cases, however, people with MTHFR variants just need a little extra vitamin B.What You Need to Know About the MTHFR Gene 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.MTHFR gene variant
===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.Our Take On The MTHFR Gene - 23andMe
===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.MTHFR gene variant 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):Homocystinuria due to MTHFR deficiency
*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==
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,Dubious MTHFR genetic mutation testing and some have gone so far to recommend against it so that patients do not waste their time.How Your Genetic Sequence Can Be Exploited By The Supplement Industry[https://www.acmg.net/docs/MTHFR_gim2012165a_Feb2013.pdf ACMG Practice Guideline: lack of evidence for MTHFR
polymorphism testing] (PDF)
The supplements they sell may not be safe, either. Taking too much folic acid may increase the risk and severity of cancer.How Your Genetic Sequence Can Be Exploited By The Supplement Industry
===MTHFR and vaccines===
Despite rumors, children with MTHFR variations can be vaccinated normally.MTHFR gene mutations are the root of all health problems – and vaccines
===Fake autism cures===
Researchers are still cautious about whether there is a meaningful link between polymorphism in the MTHFR gene and autism.MTHFR Gene C677T Polymorphism in Autism Spectrum DisordersAssociation between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis. 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).Autism cures promised by DNA testers belied by regulators
==See also==
*Anti-vaccination movement
*Vitamin and mineral supplements
==References==
Category:Autism woo
Category:Biology
Category:Genetics