先天性白内障相关晶状体蛋白质基因的研究进展

摘要

Congenital cataract is the common cause of visual disability in children.Nearly one third of congenital cataract cases may have a related genetic mutation.With the development of molecular genetics,especially gentechnik,more and more genes,such as crystallin genes,membrane protein genes,eytoskeletal protein genes and regulatory protein genes have been confirmcd to participate in the process of congenital cataract.Furthermore,crystallin genes account for most of these genes and the crystallin has the highest amount of the whole protein in lens.It has been found that nearly one hundred mutations in crystallin genes are associated with the onset of congenital cataract.Researchers are exploring how these mutations further affect the function of cellular biology and eventually lead to cataract.Although more and more research results gradually reveal the pathogenesis of congenital cataract from the level of gene and protein,the specific pathogenesis is still unclear.The recent progression about inherited congenital cataract related with crysallin genes is summarized in this review.%先天性白内障是儿童常见的致盲性眼病,近1/3病例与遗传有关.随着分子遗传学尤其基因技术的发展,越来越多的基因被证实参与了先天性白内障的发病过程.目前已报道的基因主要有晶状体蛋白质基因、膜蛋白质基因、细胞骨架蛋白质基因及调节蛋白质基因等,其中晶状体蛋白质基因在其中占很大比例,其所翻译的晶状体蛋白质又是晶状体内含量最多的蛋白质.现已发现在晶状体蛋白质基因中有近百个突变位点与先天性白内障的发病有关.这些突变的结果是如何进一步影响细胞生物学功能,最终导致白内障发生的？这些疑问是众多研究者的探寻目标.虽然越来越多的研究结果正在逐渐从基因和蛋白质水平上揭示先天性白内障的发病机制,但确切的发病机制目前尚不清楚.本文回顾了近年的国内外文献,对与遗传有关的先天性白内障相关晶状体蛋白质基因的研究进展进行综述.