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).