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

作　　者：林琳[1] 鹿士振 张春斌[1,2] LIN Lin;LU Shizhen;ZHANG Chunbin(Medicine College,Jiamusi University,Jiamusi 154007,China;Department of Medical Technology,Zhang Zhou Health Vocational College/Collaborative Innovation Center for Translation Medical Testing and Application Technology,Zhangzhou 363000,China)

机构地区：[1]佳木斯大学医学部,佳木斯154007 [2]漳州卫生职业学院医学技术系/转化医学检测应用技术协同创新中心,漳州363000

出　　处：《生命的化学》2022年第2期267-274,共8页Chemistry of Life

基　　金：国家级大学生创新训练项目(202010222051);黑龙江省省属高等学校基本科研业务费优秀创新团队建设项目(2019-KYYWF-1334);佳木斯大学博士专项科研基金启动项目(JMSUBZ2019-01)。

摘　　要：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.

关 键 词：叶酸 神经管缺陷 单核苷酸多态 

分 类 号：R741[医药卫生—神经病学与精神病学]