重组腺相关病毒介导遗传性色盲基因治疗的研究进展

Advance in recombinant adeno-associated virus mediated gene therapy for color blindness

色盲是缺乏或完全没有辨色能力的一类遗传性疾病，长期被认为是不可治愈性疾病。近年来以腺相关病毒（AAV）为载体介导的基因疗法主要用于对由视蛋白缺乏引起的红绿色盲及由视锥细胞环核苷酸门控离子通道A3（CNGA3）A或B（CNGB3）亚单位基因缺失引起的全色盲的治疗，已在动物实验中获得成功。人类色盲患者与一些实验动物存在着相同的基因缺陷，因此相关的动物实验研究结果用AAV介导的基因疗法为色盲患者进行治疗提供了有用的信息。

Color blindness represents a group of vision disorders characterized by lack of ability to distinguish different colors. The inherited color blindness has been regarded as incurable for a long period of time. Recently, adeno-associated virus（AAV） mediated gene therapy has successfully restored cone system vision in animal models with color blindness caused by different gene mutations. These mutations are presented in human color blindness patients. It is predicted that gene therapy will become a novel treatment for these color blindness victims. In addition, a single gene transfer may achieve long-term correction of color deficiency.