Kctd20基因在视网膜色素变性病变中的功能研究

视网膜色素变性（RP，Retinitis Pigmentosa）是最常见的遗传性视网膜疾病，为工作年龄段人群的首位致盲眼病，尽管RP具有显著的遗传异质性和复杂的病理机制，但感光细胞死亡是其共同的病理结局。因此，对于感光细胞死亡机制及干预的研究适用于各型RP患者。课题组前期鉴定了一个adRP的候选致病基因Kctd20，构建的条件性敲除小鼠的ERG检测提示RP相关表型。拟开展的研究针对Kctd20调控感光细胞存活/凋亡的关键点展开，构建感光细胞特异的条件性基因敲除小鼠，探索Kctd20参与RP早期视杆细胞氧化应激损伤、晚期视锥细胞代谢失衡的分子机制，以及Kctd20与光信号转导的关联。对Kctd20导致RP的致病途径和分子环路研究，具有重要的科学意义，并为发展RP新的替代疗法提供靶点线索。

Retinitis pigmentosa (RP)，a severe form of inheritable retina disease,is the leading cause of working age population. Although genetic heterogeneity and complicated pathomechanism has been found, the death of photoreceptors is the common consequence for RP. Research focus on it may facilitate all types of RP.Based on our preliminary study, we identified a novel candidate gene Kctd20 in an autosomal recessive RP family, and found RP-related phenotype in conditional knock out mice. In this study, we aim to discover mechanism of photoreceptor death related to Kctd20. Cone-cre and Rod-cre Kctd20 conditional knock out mouse will be established to examine the molecular mechanism underlining oxidative stress injury of rod and metabolism imbalance of cone, and find clue to phototransduction signal. Our study will gain insight into molecualr mechanims of RP related to Kctd20, which have significance in science and great potential applications for alternative therapy.