关键词: 神经管缺损, 椎管闭合不全, 叶酸缺乏, DNA甲基化

Abstract: Neural tube defects (NTDs) are severe congenital malformations caused by genetic and environmental factors, which brings heavy burden to our society and family. Folate, a necessary nutrient for the human body, participates in the carbon metabolism related with purine and pyrimidine synthesis, methylation and other important reactions. Folate also affects a variety of development-related genes and signaling pathways. Folate is a very important nutrient for the development of neural tube. A large number of epidemiological studies showed that the supplement of folate can effectively prevent NTDs. However, the mechanism is not entirely clear. DNA methylation is an epigenetic mechanism that was extensively studied. More and more studies showed that the abnormal DNA methylation was closely related to NTDs. In this review, we summarized the relationship between NTDs and folate metabolism, key enzymes and related genes of folate metabolism, and DNA methylation, so as to clavify the role of folate and DNA methylation in NTDs, then provide more references for us to understand the pathogenesis of NTDs and the effective prevention.

Key words: Neural tube defects, Spinal dysraphism, Folic acid deficiency, DNA methylation