Crystallin and congenital cataract
- VernacularTitle:晶状体蛋白与先天性白内障
- Author:
Hong, JU
;
Kanxing, ZHAO
- Publication Type:Journal Article
- Keywords:
congenital cataract;
crystallin;
gene;
mutation
- From:Chinese Ophthalmic Research
2009;27(12):1154-1157
- CountryChina
- Language:Chinese
-
Abstract:
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.
