视网膜色素变性的基因治疗进展

Advances in gene therapy for retinitis pigmentosa

视网膜色素变性(retinitis pigmentosa,RP)是一组进行性致盲的遗传性视网膜疾病,以视网膜光感受器和色素上皮变性为主要特征,现有的治疗方法尚不能治愈,但可在不同程度上阻止RP进展。随着基因测序的发展,基因治疗逐渐兴起,基因治疗通过载体将外源性正常基因导入患者细胞内,以纠正或替代致病基因的缺陷而治疗遗传病。基因载体是将基因导入细胞的工具,主要分为病毒载体与非病毒载体。目前基因治疗主要包括基因替代、核酶治疗、RNA干扰治疗和抑制凋亡治疗,本文主要对RP的基因治疗及其进展进行综述。

Retinitis pigmentosa is a group of inherited retinal diseases, which leads to progressive blindness and characterized by photoreceptor and pigment epithelial cells degeneration and apoptosis. There is no known cure for RP and the treatment aims at relieving symptoms currently. Gene sequencing brings development of gene therapy. In gene therapy, exogenous normal gene is introduced into target cells to modify or replace pathogenic gene through gene vectors, which include viral gene vector and nonviral gene vector. At present, gene therapy mainly includes gene replacement, ribozyme therapy, RNA interference and inhibition of apoptosis treatment. This article mainly reviews the current advances of gene therapy in treatment of retinitis pigmentosa.