突触异常发育在孤独症谱系障碍发生机制中的研究进展  

Synaptic dysplasia in development of autism spectrum disorders: research advances

作　　者：陈丽萍 吴海涛 CHEN Li-ping;WU Hai-tao(Institute of Military Cognition and Brain Sciences, Academy of Military Medical Sciences)

机构地区：[1]军事医学研究院军事认知与脑科学研究所,北京100850

出　　处：《中国药理学与毒理学杂志》2017年第12期1142-1154,共13页Chinese Journal of Pharmacology and Toxicology

基　　金：国家重点基础研究发展计划(973计划)项目(2014CB-542203);国家自然科学基金项目(31371149);国家自然科学基金项目(31522029);国家自然科学基金项目(31770929);北京市科委脑认知与脑医学专项课题(Z161100000216154)~~

摘　　要：基因变异导致突触发育异常是引发孤独症谱系障碍(ASD)的重要机制之一。通过对ASD患者及模型动物进行深入研究,鉴定出若干ASD发生相关重要基因及信号通路,并进一步证明其在大脑早期突触发育和认知功能建立过程中发挥至关重要的调节作用。但目前突触发育异常调控ASD发生的神经机制尚不明了,仍有待进一步深入探讨。本文结合国内外最新研究进展,从ASD发生相关重要蛋白分子、信号通路、神经环路以及相关靶点ASD治疗药物研发等几个方面,对突触异常发育在ASD发生中的潜在神经机制进行了系统梳理与总结,旨在进一步深化对ASD发病神经机制的理解,为ASD患者临床干预与治疗相关新型药物研发提供思路。Synaptic dysplasia induced by gene mutation is one of the most important mechanisms of the development of autism spectrum disorders（ASD）. Based on in-depth studies of ASD patients and model organisms, a number of causative genes and signaling pathways have been identified,which have been demonstrated to play crucial roles in the synaptic development and cognitive function in the brain. However, the underlying neural mechanisms of the development of ASD and synaptic dysplasia merit further investigation. Given the latest rapid advances in research on ASD in recent years, we overview and summarize the linkages and potential neural mechanisms about the synaptic dysplasia and ASD in the current review, which focuses on the related crucial molecules, signaling pathways, brain circuits and therapeutic targets in ASD clinical trials in recent years. This review is intended to deepen the understanding of the pathogenesis of neural mechanisms of ASD, and provide new ideas for development of new drugs, prevention and therapy of ASD patients in clinic.

关 键 词：孤独症 突触发育异常 药物治疗 

分 类 号：R749.94[医药卫生—神经病学与精神病学]