MTHFR

(redirected from 5,10-methylenetetrahydrofolate reductase)

MTHFR

A gene on chromosome 1p36.3 that encodes an enzyme which converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Molecular pathology
Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency and increase suceptibility to ischaemic strokes and folate-sensitive neural tube defects.
References in periodicals archive ?
BACKGROUND AND PURPOSE: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is responsible for the synthesis of 5-methyltetrahydrofolate (5-MTHF).
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation.
5,10-Methylenetetrahydrofolate reductase polymorphisms and the risk of pancreatic cancer.
Another concern about folic acid is that some people, such as the 5% to 15% of the population that is homozygous for the 677C [right arrow] T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, might have difficulty converting folic acid to its biologically active form, and therefore might not benefit sufficiently from folic acid supplementation.
5,10-methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
7 Elevation PC: Protein C deficiency; PS: Protein S deficiency; FVL: Factor V Leiden G1691A mutation; MTHFR: 5,10-Methylenetetrahydrofolate reductase C677T mutation; PT 20210: Prothrombin G2021 OA mutation; FVIII: Elevated factor Vill levels; APA: Antiphospholipid antibody (anlicardiolipin antibody lgG, IgM and lupus antico-agulant ) Table 3.
7] Engbersen AMT, Franken DG, Boers GHJ, et al: Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia: Am J Hum Genet 1995; 56: 142-150.
5,10-Methylenetetrahydrofolate Reductase (MTHFR) 677C-T and 1298 A-C Mutations are Associated with DNA Hypomethylation.
5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
Polymorphisms of the 5,10-methylenetetrahydrofolate reductase gene (mainly homozygosity for 677C [right arrow] T) that are associated with reduced enzyme activity and moderate hyperhomocysteinemia have been found to be common in migraine patients.