叶酸代谢与神经管畸形  

Folate metabolism and neural tube defects

作　　者：冯志伟 侯淑琳 张晓铮 李建婷 张霆[2] 穆箭兵 解军 FENG Zhiwei;HOU Shulin;ZHANG Xiaozheng;LI Jianting;ZHANG Ting;MU Jianbing;XIE Jun(Department of Biochemistry and Molecular Biology,Basic Medical College,Shanxi Medical University,Taiyuan 030001,China;Capital Institute of Pediatrics,Beijing 100020,China;Laboratory of Malaria and Vector Research,National Institute of Allergy and Infectious Diseases,National Institutes of Health,Bethesda 20852,USA)

机构地区：[1]山西医科大学基础医学院生物化学与分子生物学教研室,太原030001 [2]首都儿科研究所,北京100020 [3]美国国立卫生研究院过敏与传染病研究所疟疾和媒介研究实验室,马里兰州20852

出　　处：《生命的化学》2020年第7期1000-1008,共9页Chemistry of Life

基　　金：国家自然科学基金项目(81671462);山西省“1331工程”重点学科建设计划经费项目(1331KSC);山西省博士科研启动基金项目(SD1812)。

摘　　要：神经管畸形(neural tube defects,NTDs)是全球发病率排第二位的出生缺陷疾病,主要包括脊柱裂和无脑畸形。NTDs源于胚胎发育期间神经管未能完全闭合,是中枢神经系统的严重出生缺陷。人类NTDs是由遗传、环境以及遗传与环境之间的交互作用引起的。叶酸作为一碳代谢的重要物质,可以降低神经管畸形的发病率,但其具体作用机制还不清楚。本文将从代谢途径、相关基因、动物模型等方面回顾叶酸对NTDs发生影响的研究进展,旨在为探索NTDs的发病机制及预防NTDs的发生提供研究思路。Neural tube defects(NTDs)are the second most common human birth defects in the world,mainly including spina bifida and anencephaly.NTDs are the serious birth defects of the central nervous system due to the incomplete closure of neural tube during embryonic development.Studies have shown that human NTDs are caused by heredity,environment and the interaction between heredity and environment.Folic acid,as an important substance of one carbon metabolism,can reduce the incidence of NTDs.However,the mechanism is unclear.This review discussed the research progress of the effect of folic acid on the occurrence of NTDs from the aspects of metabolic pathways,related genes,animal models,and aimed to provide research ideas for exploring the pathogenesis of NTDs and preventing the occurrence of NTDs.

关 键 词：神经管畸形 叶酸代谢 基因多态性 小鼠模型 

分 类 号：R748[医药卫生—神经病学与精神病学]