摘要
分子遗传学研究证明 parkin基因是常染色体隐性遗传性少年型帕金森综合征 (AR JP)的致病基因 ,其表达产物parkin蛋白具有E3泛素 蛋白连接酶活性。Parkin蛋白可能在维持多巴胺能神经元的正常功能中发挥重要作用 ,而parkin蛋白功能障碍可能与帕金森病的发病有关。目前已经鉴定了几种 parkin蛋白的底物蛋白 ,使我们能够初步了解帕金森病发病的分子和细胞学机理 ,这对于我们最终搞清帕金森病的发病机制、开发相应的治疗药物具有极其重要的意义。本文综述了parkin蛋白最新研究进展。
It has been identified that parkin gene is the causative gene of autosomal recessive juvenile parkinsionism(AR-JP).The parkin gene product,parkin protein,has ubiquitin-protein ligase(E3) activity. Parkin protein may have a prominent role in maintaining the function of dopaminergic neurons,and dysfunction of parkin protein as an E3 enzyme may cause Parkinson disease(PD).At present,several proteins as the substrates of parkin protein have been identified.These findings provide a molecular and cellular basis for PD and the better understanding of the pathophysiology of PD and the development of therapeutic agents.This article reviews recent progress in the parkin protein.
基金
国家 8 63高技术研究发展计划资助项目 (2 0 0 1AA2 2 70 11)
