Genetic mechanisms underlying synaptic pathology in Autism Spectrum Disorder (ASD)

• 作者: HE Zheng-xiao LI Yong-yi DING Xue-jiao JIANG Lin-yan ZHU Ming-wei TANG Ming-xi TANG Ya-Ping
• 来源期刊: 西南医科大学学报
• 年，卷（期）: 2021,（5）
• 页码范围: 429-438
• 页数: 10页
• 语种: 中文
• DOI: 10.3969/j.issn.2096-3351.2021.05.003

摘要

Autism spectrum disorder (ASD) is a neuronal developmental disorder that is characterized by de-fects both in social interaction and verbal communication, and is often accompanied by restricted interest, and repeti-tive and stereotyped behaviors. The prevalence of ASD is approximately 0.8％～1.2％ in China. Although its etiology remains unclear in most cases, over 1000 genes or genomic loci have been linked to its pathogenic origin, indicating a strong genetic influence, as well as complicated pathogenic mechanisms. Here, we reviewed recent findings in the possible genetic effects on synaptic pathophysiology of ASD, and a particular focus was put on variants in genes that are related to synaptic morphology or functions, such as FMR1, NRXN, NLGN, SHANK and MeCP2. The synaptic pathology caused by these genetic defects may substantially contribute to the pathogenesis of ASD. This review out-lines several lines of evidence that have been recently reported to support the hypothesis that a genetic defect may lead to a synaptic pathology that may underlie the pathogenesis of ASD.