[Molecular genetics of the remethylation of homocysteine]

In plasma of mothers with a child affected with a neural tube defect plasma homocysteine is often elevated, and attributed to a reduced folate-dependent homocysteine remethylation. There is strong evidence that folic acid prevents fasting moderate hyperhomocysteinemia. The pathophysiology of neural tube defect and interactions between genetic and nutritional factors that determine plasma homocysteine levels remain poorly understood. Investigations on genetic causes of moderate hyperhomocysteinemia are in progress. This mini-review focuses on molecular genetic knowledge of folate-dependent homocysteine remethylation in neural tube defect.