视网膜变性Pde6b基因突变小鼠治疗的研究进展

摘要

视网膜变性动物模型是研究人类遗传性视网膜变性疾病治疗的重要工具,目前常用于基础研究的视网膜变性动物模型包括系列视杆细胞变性小鼠(rd),如rd1小鼠、rd10小鼠和nmf137小鼠,这些模型鼠均为磷酸二酯酶β亚基(Pde6b,PDEβ)基因突变的小鼠模型,因其发病机制与人类具有某些同源性,因而已大量应用于视网膜变性疾病的基因诊断和治疗研究中.为了探索更为有效的治疗方法,就3种模型鼠的发病机制、药物治疗、神经营养治疗以及干细胞治疗方法、疗效等的研究进展进行综述.%In the past decades,more and more mutant genes that cause inherited retinal diseases have been found.Meanwhile,many naturally occurring animal models have also been found to show similar gene mutations and phenotypes as the human inherited retinal diseases,which have led to the development of a variety of therapeutic strategies for those traditionally incurable inherited diseases.These models include rod degeneration (rd) mice,such as rd1 model,rd10 model and nmf137.To compare the efficacy of these strategies,this article briefly reviews the recent progress in the treatment of the mouse models with mutations in the subunit of rod phosphodiesterase (Pde6b)gene by pharmaceutical,stem cell and gene therapy in order to find a more effective treatment for retinal degeneration.