视网膜色素变性基因治疗的相关研究进展

Research progress of gene therapy for retinitis pigmentosa

摘要:

视网膜色素变性(RP)是以视杆和视锥感光细胞退化及视网膜色素上皮细胞变性为特征的遗传性视网膜疾病。RP发病年龄和病情进展与基因和遗传方式有关，受环境影响。基因治疗通过载体转移治疗性基因，对靶细胞进行遗传修饰，纠正或替代致病RP基因。本文介绍RP基因治疗相关基因载体研究进展，并就5个常见基因型(RHO、PDE6B、MERTK、RLBP1、RPGR)对RP基因治疗疗效及安全性研究进展予以综述。

Abstract:

Retinitis pigmentosa(RP)is a hereditary retinal disease characterized by degeneration of retina rods and cones photoreceptor cells and degeneration of retinal pigment epithelial cells. The age of onset and progression of RP are genetically related and influenced by the environment. Gene therapy uses vectors in delivering therapeutic genes to genetically modify target cells, so as to correct or replace the disease-causing RP genes. This article introduces the research progress of vectors in RP gene therapy, and review the efficacy and safety of gene therapy on five common genotypes(RHO, PDE6B, MERTK, RLBP1, RPGR).