He Longkai, Liu Xiaoping, Song Yanyan, Tang Yaping
Pediatric Research Institute, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):753-756. doi: 10.3760/cma.j.issn.1003-9406.2018.05.031.
Autism spectrum disorders (ASDs) comprise a group of common neurodevelopmental disorders whose pathogenesis remains unclear. More than 100 genes have been associated with ASDs, some of which have shown to play important roles in the development and function of synapses, a crucial step of information transmission between neurons. Studies have found abnormalities in synaptic transmission, density, and structures in the brains of autistic patients. NRXN-NLGN-SHANK pathway has been associated with synaptic function of the brain, and its primary role is to regulate synaptic formation, elimination, plasticity and maturation. Genes including NRXN, NLGN, SHANK, and PSD95 are involved in the NRXN-NLGN-SHANK pathway. Mutations of such genes may lead to dysfunction of the pathway and ASDs-related phenotypes found in patients and animal models. This paper has provided a review for the research progress made on the mutations of NRXN-NLGN-SHANK pathway related genes and their roles in the pathogenesis of ASDs.
自闭症谱系障碍（ASD）是一组常见的神经发育障碍，其发病机制尚不清楚。100多个基因已被证实与自闭症谱系障碍有关，其中一些基因在突触的发育和功能中发挥着重要作用，而突触是神经元之间信息传递的关键步骤。研究发现，自闭症患者大脑中的突触传递、密度和结构存在异常。NRXN-NLGN-SHANK通路与大脑的突触功能有关，其主要作用是调节突触的形成、消除、可塑性和成熟。包括NRXN、NLGN、SHANK和PSD95在内的基因参与了NRXN-NLGN-SHANK通路。这些基因的突变可能导致该通路功能障碍以及在患者和动物模型中发现的与自闭症谱系障碍相关的表型。本文综述了NRXN-NLGN-SHANK通路相关基因的突变及其在自闭症谱系障碍发病机制中的作用的研究进展。
