神经管缺陷的病因学研究进展  

Research advances in the etiology of neural tube defects

作　　者：周密 翟瑄[1] Zhou Mi;Zhai Xuan(Department of Neurosurgery,Affiliated Children's Hospital,Chongqing Medical University,National Clinical Research for Children's Health&Disorders,Ministry of Education's Key Laboratory of Children's Development&Disorders,Municipal Key Laboratory of Pediatrics,Chongqing 400015,China)

机构地区：[1]重庆医科大学附属儿童医院神经外科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,重庆400015

出　　处：《中华小儿外科杂志》2023年第5期473-476,共4页Chinese Journal of Pediatric Surgery

基　　金：国家自然科学基金资助项目(81971217);国家临床医学研究中心研究项目(NCRC-2019-GP-17)。

摘　　要：神经管缺陷(neural tube defects,NTDs)是中枢神经系统最常见的先天性畸形,由遗传因素和环境因素共同影响。神经管闭合关键信号通路如SHH通路和PCP通路、叶酸代谢通路及肌醇代谢通路中的重要基因与NTDs的发生密切相关,其调控方式包括基因突变、基因间相互作用及表观遗传修饰等。环境因素如营养缺乏、孕期接触等也在NTDs发生过程中起着重要的作用。该文就神经管缺陷的病因学研究进展作一综述,以期为NTDs发病机制的深入研究、疾病防治提供参考。Influenced by a combination of genetic and environmental factors,neural tube defects(NTDs)are the most common congenital malformations of central nervous system.Such important genes in key signaling pathways of neural tube closure as SHH,PCP,folate metabolism and inositol metabolism correlated closely with the occurrence of NTDs.They regulate the occurrence of NTDs through gene mutations,gene interactions and epigenetic modifications.Additionally such environmental factors as nutritional deficiency and exposure during pregnancy play an important role in the occurrence of NTDs.This review focused on the latest etiological researches of NTDs to provide practical references for further researches,preventions and treatments of NTDs.

关 键 词：神经管缺损 病因学 基因 表观遗传学 环境 

分 类 号：R741[医药卫生—神经病学与精神病学]