IMPDH1基因突变与视网膜色素变性的研究进展

Progress in the research of mutation of IMPDH1 gene and retinitis pigmentosa

视网膜色素变性(RP)是视网膜感光细胞和色素上皮细胞变性导致的最常见的遗传性致盲眼底病,具有高度的遗传异质性及临床异质性。IMPDH1存在于全身各处器官中。近年来对RP发病机制的探讨已成为研究热点。随着对IMPDH1基因研究的深入,人们发现IMPDH1基因对RP的发病机制研究有着重要意义。对于这种致病基因的结构、突变及其功能目前已有了新的研究进展。本文综述了IMPDH1基因在视网膜色素变性中的最新研究进展。

Retinitis pigmentosa（RP） is a common genetic eye di-sease caused by degeneration of photoreceptor and retinal pigment epithelium.It has great genetic and clinical heterogeneity.IMPDH1 exists in the every organ throughout the body.Recently the discussion of RP pathogenesis has become the hotspot of study.With the deep study of IMPDH1 gene,it has been found that IMPDH1 gene plays a critical role in RP pathogenesis.New progress has been made on the study of structure,mutation and function of the gene.