先天性白内障相关的主要内源性蛋白基因研究进展  

Research progress in major intrinsic protein genes of congenital cataract

作　　者：徐佳薇 孙雯[1] 杜持新[1] Xu Jiawei;Sun Wen;Du Chixin(Department of Ophthalmology,First Affiliated Hospital of Zhejiang University,Hangzhou 310003,China)

机构地区：[1]浙江大学医学院附属第一医院眼科,杭州310003

出　　处：《中华眼科杂志》2020年第5期386-392,共7页Chinese Journal of Ophthalmology

摘　　要：先天性白内障是严重影响婴幼儿视觉发育的常见眼病,约30%有遗传因素。随着分子遗传学尤其是基因技术的发展,越来越多的基因突变位点被证实与先天性白内障的发病有关。已报道的基因主要有晶状体蛋白基因、膜蛋白基因、转录因子调节基因、细胞骨架蛋白基因等。目前与先天性白内障相关的遗传研究主要集中在晶状体蛋白基因上,但近几年开始逐步重视膜蛋白基因的致病机制。主要内源性蛋白基因属于膜蛋白基因的一种,其编码的主要内源性蛋白在成熟晶状体内含量最丰富,约占细胞膜蛋白总量的50%。现已发现的主要内源性蛋白基因中有二十几种突变位点与先天性白内障的发病有关,这些突变是如何影响细胞生物功能从而进一步导致白内障发生?本文回顾了近年国内外相关文献,从基因和蛋白质水平对与遗传有关的先天性白内障主要内源性蛋白基因的研究进行综述。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.

关 键 词：白内障 突变 晶体蛋白质类 膜蛋白质类 细胞支架蛋白质类 

分 类 号：R77[医药卫生—眼科]