先天性白内障晶状体蛋白致病基因及其功能研究进展  

Research progress of pathogenic crystallin genes on congenital cataract and their functions

作　　者：王珏雪 万修华[1] WANG Juexue;WAN Xiuhua(Beijing Tongren Eye Center,Beijing Tongren Hospital of Capital Medical University,Beijing 100010,China)

机构地区：[1]首都医科大学附属北京同仁医院,北京市100010

出　　处：《眼科新进展》2023年第8期656-661,共6页Recent Advances in Ophthalmology

基　　金：国家自然科学基金项目(编号:82171037)。

摘　　要：先天性白内障病因复杂,遗传性因素占22.3%。晶状体蛋白基因占突变基因的50.0%,包括α-晶状体蛋白、β-晶状体蛋白、γ-晶状体蛋白,其突变的致病机制主要是通过改变蛋白的二级或三级结构干扰蛋白质正确折叠方式从而影响蛋白的溶解度和稳定性,并形成细胞毒性的聚集小体;干扰蛋白与蛋白之间的相互作用并诱导细胞凋亡;消除三磷酸腺苷拮抗聚集效应等,目前针对致病机制的初步药物研究有羊毛甾醇等,可为治疗白内障提供新思路。因此,本文就晶状体蛋白基因的突变及其功能研究进行综述。The pathogenesis of congenital cataracts is complex;genetic factors account for 22.3%.The crystallin genes account for half of the mutant genes,includingα-crystallin,β-crystallin andγ-crystallin.Its pathogenic mechanism is mainly to change the secondary or tertiary structure of the protein to interfere with the correct folding of the protein,thereby affecting the protein solubility and stability,forming cytotoxic aggregates,interfering with protein-protein interaction and inducing apoptosis.Besides,it can eliminate the antagonistic aggregation effect of adenosine triphosphate.At present,lanosterol and other drugs have been used for the preliminary study on the pathogenesis of congenital cataracts,providing new ideas for the treatment of cataracts.Therefore,the mutations and functions of crystallin genes are reviewed in this paper.

关 键 词：先天性白内障 晶状体蛋白 基因突变 

分 类 号：R776.1[医药卫生—眼科]