叶酸缺乏及相关基因SNP对神经管缺陷的影响

The effect of folate deficiency and related gene SNP on neural tube defects

神经管缺陷(neural tube defects,NTDs)是由多重复杂因素影响的神经管形成及分化过程紊乱而产生的严重先天畸形。叶酸缺乏及代谢酶所携带的单核苷酸多态(single nucleotide polymorphism,SNP)与NTDs存在高度相关性。叶酸代谢关键酶SNP在人群中分布广泛,是NTDs的重要潜在危险因素。叶酸代谢关键酶SNP会影响叶酸的代谢过程,进而致使DNA甲基化、DNA合成、同型半胱氨酸代谢等的异常,最终引发NTDs。本综述旨在通过分析总结体内叶酸缺乏及相关基因SNP对神经管缺陷的影响来为更好地防治神经管缺陷提供新思路。

Neural tube defects(NTDs)are serious congenital malformations caused by the disorder of neural tube formation and differentiation that are affected by multiple complex factors.Single nucleotide polymorphism(SNP)carried by metabolic enzymes and folate deficiency is highly correlated with the incidence of NTDs.In particular,SNP,a key enzyme of folate metabolism,which is widely distributed in people,is an important potential risk factor of NTDs.It can affect the metabolic process of folate,which further leads to the abnormalities of DNA methylation,DNA synthesis,homocysteine metabolism and other exceptions,eventually triggering NTDs.This review aims to provide new ideas for better prevention and treatment of neural tube defects by analyzing and summarizing the effects of folate deficiency and related gene SNP on neural tube defects.