A common mutation in 5, 10‐methylenetetrahydrofolate reductase (MTHFR) gene in two Arab communities

Abstract

Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the B12-dependent methylation of homocysteine to methionine [1], and a reduction in its levels or activity leads to hyperhomocysteinemia [1], and is described as a risk for coronary artery disease (CAD) and deep vein thrombosis (DVT) [2]. The C677T mutation is a specific point mutation in the MTHFR gene which substitutes alanine for valine, and is associated with enzyme thermolability and reduced activity [3].