Article
Biological and clinical implications of the MTHFR C677T polymorphism.
Trends in pharmacological sciences - 1 Apr 2001
Ueland P M, Hustad S, Schneede J, Refsum H, Vollset S E
Abstract excerpt
The enzyme methylenetetrahydrofolate reductase (MTHFR) directs folate species either to DNA synthesis or to homocysteine (Hcy) remethylation. The common MTHFR C677T polymorphism affects the activity of the enzyme and hence folate distribution. Under conditions of impaired folate status, the homozygous TT genotype has been regarded as harmful because it is associated with a high concentration of plasma total Hcy,...
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