Overview of neural tube defects: history, folate-homocysteine cycle, MTHFR C677T polymorphism and preventions

Abstract

Neural tube defects (NTDs) are common significant congenital malformations caused by very early disruptions in the development of the brain and spinal cord. They are caused by a neurulation failure, which happens about the 28^th day after conception. Folates and vitamin B12 (vitB12) deficiencies, as well as hyperhomocysteinemia and MTHFR C677T polymorphism, are the common risk factors studied for the occurrence of these birth defects. In this study, we reported the roles of folates, vitB12, homocysteine, MTHFR gene and their relation with the appearance of NTDs. We also discuss prevention strategies, such as food fortification with folic acid, to encourage developing countries to adopt these recommendations in order to prevent these birth defects in subsequent pregnancies.