Methyl Tetrahydrofolate Reductase (MTHFR)
Methyl Tetrahydrofolate Reductase (MTHFR) is a gene that helps convert folic acid and vitamin B12 into their active, methylated, forms. The active form of folic acid is L-methylfolate. The active form of vitamin B12 is methylcobalamin.
The active forms of these vitamins are involved in maintaining healthy DNA and RNA and in detoxifying homocysteine by converting it to methionine.
Excess homocysteine is harmful for the body as it promotes inflammation and increases the risk for cardiovascular disease, including hypertension, stroke and premature coronary artery disease. Decreased methylation capacity also impairs the production of neurotransmitters.
MTHFR is recognized as an independent risk factor for anxiety, depression, schizophrenia, autism and bipolar disorder.
- MTHFR C677T
- MTHFR A1298C
Fasting: Not required
Water: Drink plenty of water to stay well hydrated.
Medications: Take all medications as prescribed.
10-15 business days
Result turnaround times are estimates and not guaranteed. Due to factors outside of our control, such as weather, holidays, confirmation/repeat testing or equipment maintenance, our lab may require additional time to complete tests.
Hou X, Chen X, Shi J. Genetic polymorphism of MTHFR C677T and premature coronary artery disease susceptibility: A meta-analysis.Gene. 2015 Jul 1;565(1):39-44.
Li P, Qin C. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis. Gene. 2014 Feb 10;535(2):359-64.
Lin W, Yuhong Li, et. al. Methylenetetrahydrofolate reductase and psychiatric diseases. Translational Psychiatry. 2018; 8:242.
Saha T, Chatterjee M, Verma D, Ray A, Sinha S, Rajamma U, Mukhopadhyay K. Genetic variants of the folate metabolism system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems. Prog Neuropsychopharmacol Biol Psychiatry. 2018 Jun 8;84(Pt A):1-10.
Wu YL, Hu CY, Lu SS, Gong FF, Feng F, Qian ZZ, Ding XX, Yang HY, Sun YH. Association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and essential hypertension: a systematic review and meta-analysis. Metabolism. 2014 Dec;63(12):1503-11.