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唐氏综合征(Down syndrome,DS),也称21三体综合症,由先天性染色体异常引起,其主要特征是精神发育迟缓和先天性心脏病。所有的DS患者都会出现早发的阿尔茨海默病样的神经病理学特征。Intersectin 1基因位于人类第21条染色体DS的关键区域,且Intersectin 1蛋白在DS病人脑中有高表达,因此全面掌握Intersectin 1的功能特性对进一步阐明DS的发病机制有重要意义。Intersectin 1的功能不仅表现在中枢神经系统中特有的神经递质的传递,并且还参与介导细胞增殖分化等有关的一系列信号通路的传导。本文就Intersectin 1在中枢神经系统中的分布、表达特征及功能作一综述。
Down syndrome (DS), also known as trisomy 21, is caused by congenital chromosomal abnormalities, the main features of which are mental retardation and congenital heart disease. Alzheimer’s disease-like neuropathological features occur early in all DS patients. Intersectin 1 is located in the key region of chromosome 21 of human chromosome 21, and Intersectin 1 protein is highly expressed in the brain of patients with DS. Therefore, to fully understand the functional characteristics of Intersectin 1 is of great significance to further elucidate the pathogenesis of DS. The function of Intersectin 1 is not only manifested in the transmission of specific neurotransmitters in the central nervous system but also in the mediation of a series of signaling pathways involved in cell proliferation and differentiation. This article reviews the distribution, expression characteristics and functions of Intersectin 1 in the central nervous system.