NRXN-NLGN-SHANK通路基因变异在自闭症谱系障碍发病机制中的作用  

Role of NRXN-NLGN-SHANK pathway gene variations in the pathogenesis of autism spectrum disorders

作　　者：何龙楷 刘晓萍[1] 宋燕燕[1] 唐亚平 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, Chin)

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心儿科研究所,510623

出　　处：《中华医学遗传学杂志》2018年第5期753-756,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（31671098）

摘　　要：自闭症谱系障碍（autism spectrum disorders，ASDs）是一种常见的神经发育障碍性疾病，发病机制不明。目前已知有超过100个基因与ASDs相关，其中一部分参与调控神经元突触的发展和功能。突触是神经元间进行信息传递的关键部位。ASDs患者和动物模型大脑中，突触的传递、密度和结构存在异常。NRXN-HNLGN-SHANK通路在大脑中与突触的功能相关，其主要作用是调节突触的形成、发育、可塑性和成熟，通路内相关基因包括NRXN、NLGN、SHANK、PSD95等，这些基因突变可导致NRXN-NLGN-SHANK通路功能异常，从而使患者和动物模型出现ASDs相关表型。本文就NRXN-NLGN-sHANK通路内相关基因变异在ASDs的发病机制的研究进展进行综述。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.

关 键 词：自闭症谱系障碍 突触 NRXN基因 NLGN基因 SHANK基因 

分 类 号：R749.94[医药卫生—神经病学与精神病学]