Wang D D, Yang H J, Yi J L
Eye Hospital Affiliated to Nanchang University, Nanchang 330006, China.
Zhonghua Yan Ke Za Zhi. 2016 Feb;52(2):141-9. doi: 10.3760/cma.j.issn.0412-4081.2016.02.016.
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 confirmed 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视力残疾的常见原因。近三分之一的先天性白内障病例可能存在相关基因突变。随着分子遗传学的发展，尤其是基因工程的发展，越来越多的基因，如晶状体蛋白基因、膜蛋白基因、细胞骨架蛋白基因和调节蛋白基因，已被证实参与先天性白内障的形成过程。此外，晶状体蛋白基因在这些基因中占大多数，且晶状体蛋白在晶状体中占整个蛋白质的比例最高。已发现晶状体蛋白基因中近百种突变与先天性白内障的发病有关。研究人员正在探索这些突变如何进一步影响细胞生物学功能并最终导致白内障。尽管越来越多的研究结果逐渐从基因和蛋白质水平揭示了先天性白内障的发病机制，但具体发病机制仍不清楚。本文综述了与晶状体蛋白基因相关的遗传性先天性白内障的最新研究进展。
