The genetic and molecular basis of congenital cataract
The genetic and molecular basis of congenital cataract
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DOI：
10.1590/s0004-27492011000200016
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发表时间：
2011-04-01
影响因子：
1
通讯作者：
Waiswo, Mauro
中科院分区：
文献类型：
--
作者：
Santana, Alessandro;Waiswo, Mauro
先天性白内障是婴儿期视力受损和失明的最可治疗的原因之一，估计每10,000名活产儿中有1至6例。大约50%的先天性白内障病例可能有遗传因素。所有三种孟德尔遗传类型都被报道为白内障；然而，常染色体显性遗传似乎是最常见的。晶状体的透明和高折射率是通过精确的纤维细胞结构和晶状体蛋白质在浓度、稳定性和超分子结构方面的动态平衡来实现的。对遗传性先天性白内障的研究导致了几类候选基因的鉴定，这些基因编码蛋白质，如晶体蛋白、晶状体特异性连接蛋白、水通道蛋白、细胞骨架结构蛋白和发育调节因子。本研究的目的是回顾在了解先天性白内障分子遗传学基础方面取得的最新进展。
Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births. Approximately fifty percent of all congenital cataract cases may have a genetic cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of the fiber cells and the homeostasis of the lens proteins in terms of their concentration, stability, and supramolecular organization. Research on hereditary congenital cataract led to the identification of several classes of candidate genes that encode proteins such crystallins, lens specific connexins, aquaporine, cytoskeletal structural proteins, and developmental regulators. The purpose of this study was to review the literature on the recent advances made in understanding the molecular genetic basis of congenital cataracts.