中心粒周蛋白相关疾病发病机制的新进展

中心粒周蛋白(pericentrin,PCNT)是一种高度保守的广泛存在于动物和人体组织细胞中的蛋白,是中心粒周围物质(pericentriolar material,PCM)的组成成分之一。PCNT在细胞的周期进程和信号传导中发挥关键作用,包括参与调控中心体的结构和功能,参与有丝分裂期纺锤体形成和微管成核等,其异常表达与Ⅱ型骨发育不良性原发性侏儒症、糖代谢异常、恶性肿瘤、精神类、唐氏综合征、纤毛类等多种疾病的发生有关。近期有研究表明,其对胰岛B细胞的胰岛素分泌也有一定的影响。本文对PCNT的结构与功能及其相关疾病的发病机制的研究进展作一综述。

New Advance of the Pericentrin Relatived Disease

ABSTRACT: Pericentrin(PCNT), a component of the pericentriolar material (PCM), is a highly conserved protein throughout the animal up to human. PCNT has important functions including regulating the structure and function of centrosome, organization of the spindle and nucleation of the microtubule in cell cycle progression and signaling processes. Certain kinds of diseases including osteo-dys- plastic primordial dwarfism of Majewski type 2, abnormal carbohy-drate metabolism, cancer, mental disorders, Down''s syndrome, cilia pathies are related to PCNT mutation or disruption. Recently, emerging studies suggest that PCNT is involed in the progression of the in- sulin secretion of beta cells.This article reviews new advance of pericentrin about its structure, biological function, polymorphism and re- lated diseases.