先天性白内障相关晶状体蛋白基因突变的研究进展

Advances in study on mutations of congenital cataract-related lens protein genes

先天性白内障是全世界儿童视力障碍和失明的最常见原因,约四分之一与遗传相关。迄今已在遗传相关先天性白内障中发现了100多个基因的突变,而晶状体蛋白作为晶状体中最主要的成分,其编码基因的突变与先天性白内障的发生密切相关。大量研究证实,与先天性白内障相关的致病基因包括α、β、γ晶状体蛋白基因、膜蛋白基因、细胞骨架蛋白基因和调节眼球发育的基因等,其中约一半的突变发生在晶状体蛋白基因中。晶状体蛋白基因的突变可能影响蛋白质的稳定性、溶解性和寡聚性,干扰晶状体的有序排列,导致晶状体混浊。本文就近年来先天性白内障相关的晶状体蛋白基因的研究进展作一简要综述。

Congenital cataract is the most common cause of visual impairment and blindness in children worldwide,with about a quarter is related to genetics.To date,more than 100 gene mutations have been found in inherited congenital cataracts.As the most important component of the crystalline lens,the gene mutation of lens protein is closely related to congenital cataract.A large number of studies have confirmed that the pathogenic genes associated with congenital cataract includeα/β/γlens protein gene,membrane protein gene,cytoskeleton protein gene,and so on.About half of the mutations occurred in the lens protein genes,and the gene mutation may affect the stability,solubility and oligopoly of the protein,as well as interfere with the orderly arrangement of lens fibers,and lead to lens opacity.In this paper,the research progress of lens protein genes related to congenital cataract in recent years is reviewed.