Down syndrome (DS) is the most common cause of cognitive impairment associated with a congenital chromosomal abnormality, trisomy of chromosome 21. Mental retardation and congenital heart defects are key features of DS. All DS individuals develop early-onset Alzheimer's disease-like neuropathology. Intersectin 1 gene is localized on human chromosome 21, the critical region of DS, and it has higher expression in the brain of DS patients than in normal individuals. So fully understanding functions of intersectin 1 is critical for revealing the pathogenesis of DS. Intersectin 1 protein has two isoforms: intersectin 1-L and intersectin 1-S. This review will focus on the distribution, expression characters and functions of intersectin 1 in the central nervous system.
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。