Gene MTR

Folate and homocysteine are involved in DNA synthesis and methylation processes. The MTR gene is one of the key enzymes involved.

Folate deficiency is associated with an increased incidence of neural tube defects (NTDs) and periconceptional folic acid supplementation has been shown to decrease the rate of NTDs by 70%. This beneficial effect of folic acid supplementation has led to the introduction of mandatory folic acid fortification of foods in several countries. In addition, an elevated homocysteine concentration is a marker for an increased risk of stroke, and it has been suggested that this is the result of long-term inadequate levels of B vitamins and endothelial dysfunction. There is increasing evidence that folic acid interventions aimed at reducing homocysteine levels reduce the incidence of stroke.

The MTR gene encodes 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis, catalyzing methyl transfer from free methylcobalamin to homocysteine.