First Observation of MTHFR 678 C-A (Ala222Ala) Single Nucleotide Polymorphism
Journal Title: Turkish Journal of Hematology - Year 2012, Vol 29, Issue 2
Abstract
To the Editor, The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism. MTHFR catalyses NADPH-linked reduction of N5,10-methylenetetrahydrofolate to N5-methylene tetrahydrofolate. The MTHFR gene exhibits 2 common genetic polymorphisms (C677T and A1298C). The MTHFR 677 C to T substitution converts alanine to a valine residue, resulting in a thermolabile enzyme [1]. A reduction in MTHFR activity leads to an elevated plasma homocysteine level, which has been implicated as a risk factor for vascular and thromboembolic disease [2-4].
Authors and Affiliations
Yonca Eğin, Nejat Akar
Keywords
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