MTHFR MUTATIONS

Overview

Two mutations (C677T and A1298C) in the MTHFR gene have been associated with increase in the levels of circulating Homocysteine. Homozygosity for the C677T mutation or compound heterozygosity for C677T and A1298C is associated with reduced MTHFR activity. Decreased MTHFR activity leads to Hyperhomocysteinemia and lowers plasma folate levels. Homozygosity for 677C>T may increase risk for venous thrombosis and pregnancy complications (pre-eclampsia, placental abruption, intrauterine growth restriction).