Xu J W, Sun W, Du C X
Department of Ophthalmology, First Affiliated Hospital of Zhejiang University, Hangzhou 310003, China.
Zhonghua Yan Ke Za Zhi. 2020 May 11;56(5):386-392. doi: 10.3760/cma.j.cn112142-20190605-00298.
Congenital cataract is a common eye disease that seriously affects the visual development of infants and children. Nearly 30% of cases have cataract-linked, inherited mutations. With the development of molecular genetics, especially gentechnik, more and more genes, such as crystallin genes, membrane protein genes, transcription factors and cytoskeletal protein genes, have been confirmed to be associated with the onset of congenital cataract. There have been many studies on crystallin genes, but studies on the pathogenesis of membrane protein genes have gradually been emphasized as well in recent years. Furthermore, major intrinsic protein (MIP) genes belong to membrane protein genes, and the MIP translated by them accounts for about 50% of the total cell membrane proteins.It has been found that more than twenty mutations in MIP genes participate in the development of congenital cataract. How do these mutations further affect the cellular function and eventually lead to cataract? The recent progression about inherited congenital cataract related with MIP genes at the levels of genes and proteins is summarized in this review. -.
先天性白内障是一种常见的眼病，严重影响婴幼儿的视觉发育。近30%的病例存在与白内障相关的遗传突变。随着分子遗传学的发展，尤其是基因工程的发展，越来越多的基因，如晶状体蛋白基因、膜蛋白基因、转录因子和细胞骨架蛋白基因，已被证实与先天性白内障的发病有关。关于晶状体蛋白基因已有许多研究，但近年来对膜蛋白基因发病机制的研究也逐渐受到重视。此外，主要内在蛋白（MIP）基因属于膜蛋白基因，由它们翻译的MIP约占细胞膜蛋白总量的50%。已发现MIP基因中的二十多种突变参与先天性白内障的发生。这些突变如何进一步影响细胞功能并最终导致白内障？本文综述了近年来与MIP基因相关的遗传性先天性白内障在基因和蛋白质水平上的研究进展。-
