视网膜退行性疾病的分子层面
Molecular aspects of retinal degenerative diseases.
作者信息
Lev S
机构信息
Department of Neurobiology, Weizmann Institute of Science, Rehovot, Israel.
出版信息
Cell Mol Neurobiol. 2001 Dec;21(6):575-89. doi: 10.1023/a:1015183500719.
Abstract
Retinal degeneration, either acquired or inherited, is a major cause of visual impairment and blindness in humans. Inherited retinal degeneration comprises a large group of diseases that result in the loss of photoreceptor cells. To date, 131 retinal disease loci have been identified, and 76 of the genes at these loci have been isolated (RetNet Web site). Several of these genes were first considered candidates because of their chromosomal localization or homology to genes involved in retinal degeneration in other organisms. In this review, I will discuss recent advances in the identification of genes that cause retinal degeneration, and I will describe the mechanisms of photoreceptor death and potential treatments for retinal degenerative diseases.
摘要
视网膜变性，无论是后天获得的还是遗传的，都是人类视力损害和失明的主要原因。遗传性视网膜变性包括一大类导致光感受器细胞丧失的疾病。迄今为止，已确定了131个视网膜疾病基因座，其中76个基因座上的基因已被分离出来（RetNet网站）。这些基因中有几个最初被认为是候选基因，是因为它们的染色体定位或与其他生物体中参与视网膜变性的基因具有同源性。在这篇综述中，我将讨论在导致视网膜变性的基因鉴定方面的最新进展，并描述光感受器死亡的机制以及视网膜退行性疾病的潜在治疗方法。
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