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 ?
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation.
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.
Seven functional polymorphisms and six genes in the folate homocysteine pathway were considered: 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C > T, MTHFR 1298A > C, cystathionine [beta] synthase (CBS) 844ins68, methionine synthase (MTR) 2756A > G, methionine synthase reductase (MTRR) 66A > G, thymidylate synthase (TYMS) 1494del6, and dihydrofolate reductase (DHFR) c.
METHODS: In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyltransferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homocysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase.
6] dependent) and 5,10-methylenetetrahydrofolate reductase (MTHFR) (methylates homocysteine to methionine, vitamin [B.
Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: A case-control study in an Indian population.
A mutation in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) [7] has been associated with increased tHcy concentrations, especially in concert with deficient folate status (15).
Mothers and newborns were characterized for two genetic polymorphisms, one in the CYP2E1 gene (G1259C), and another in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene (C677T).