孤独症谱系障碍相关信号通路研究进展

Advances in signaling pathways related to autism spectrum disorder

孤独症谱系障碍(autism spectrum disorder,ASD)是一种神经发育障碍性疾病,发病机制尚未明确,目前治疗主要以康复行为干预和教育为主。各种动物模型与临床试验表明,其发病机制与一些分子通路的调控改变有关,目前文献报道研究较多的有mTOR、Wnt/β-catenin、Notch、Reelin、JAK-STAT、Sonic hedgehog、IQSEC2等信号通路。该文将研究较广泛的信号通路与ASD发病机制的相关研究进行综述,阐述ASD中分子通路方面的异常,以期对研究ASD提供帮助。

Autism spectrum disorder(ASD)is a neurodevelopmental disorder which pathogenesis has not been determined.At present,rehabilitation behavior intervention and education are the main treatments.Various animal models and clinical trials have shown that its pathogenesis is related to the regulatory changes of some molecular pathways.At present,there are many signaling pathways reported in the literature such as mTOR,Wnt/β-catenin,Notch,Reelin,JAK-STAT,Sonic hedgehog,IQSEC2 and so on.This article reviews the related researches on a wider range of signaling pathways and the pathogenesis of ASD,and describes the abnormalities in molecular pathways of ASD,which will be helpful for the study of ASD.