MTHFR

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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 ?
Methylenetetrahydrofolate reductase (MTHFR; EC 1.5.1.20) is a key enzyme in folate and homocysteine (Hcy) metabolism (Bhaskar et al., 2011).
Common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations.
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases.
Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility.
Methylenetetrahydrofolate reductase gene mutations as risk factors for sudden hearing loss.
The 677T allele and 677C/T genotype of methylenetetrahydrofolate reductase gene 677C>T polymorphism, which were over-represented in depression patients and were respectively associated with 1.82-fold (p=0.001) and 3.65-fold (p0.05).
Bennouar N, Allami A, Azeddoug H, Bendris A, Laraqui A, ElJaffali A, El-Kadiri N, Benzidia R, Benomar A, Fellat S, Benomar M (2007) Thermolabile Methylenetetrahydrofolate Reductase C677T Polymorphism and Homocysteine Are Risk Factors for Coronary Artery Disease in Moroccan Population.
Kim et al., "The roles of methylenetetrahydrofolate reductase 677C>T and 1298A>C polymorphisms in moyamoya disease patients," Child's Nervous System, vol.
Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population.
Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies.
Introduction: Recently in the complementary medicine profession there has been a major focus on genetic mutations in methylenetetrahydrofolate reductase (MTHFR) enzyme that are associated with elevated homocysteine levels.
These are methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR).