晶状体蛋白与先天性白内障

先天性白内障是全世界约1/10盲童失明的原因,绝大多数先天性白内障为单基因遗传病,其遗传方式包括常染色体显性遗传、常染色体隐性遗传和X连锁遗传3种。迄今为止在人类及其他动物定位的遗传性先天性白内障的致病基因主要包括编码晶状体结构蛋白、缝隙连接蛋白、膜蛋白、晶状体发育中的调节蛋白的基因。晶状体蛋白是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。了解遗传性先天性白内障的发病机制有助于理解环境及营养因素在晶状体混浊中的作用。就晶状体蛋白的功能、晶状体蛋白基因突变及其导致的先天性白内障表型进行综述。

Crystallin and congenital cataract

Congenital cataract is responsible for approximately one tenth of childhood blindness worldwide.Generally,cataract includes three inheriting types:autosomal dominant,autosomal recessive or X-linked.The identified genes so far for hereditary cataracts in both human and animal model mainly include encoding structural lens protein,gap junction protein,membrane protein and regulatory protein involved in lens development.Crystallins are the major structural protein of the lens.Mutation in the crystallin genes can result in lens opacity.Understanding of the mechanism of hereditary cataract may also be helpful for us to understand the involvement of environmental and nutritional factors in the process of lens opacification.The function of the crystallins proteins,the mutations in crystallin genes and associated phenotypes are summarized.