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帕金森病相关致病基因的研究进展
Research progress of Parkinson’s disease-related genes
【摘要】 近年来,帕金森病(PD)的遗传学研究取得了较大的进展,迄今为止已经确定了PARK1-PARK10等10个单基因与PD的发生有关。其中三个基因产物与家族性PD有关,它们分别是α-synuclein(PARK1)、parkin(PARK2)和泛素蛋白C末端羟化酶-L1(PARK5),它们均参与Lewy小体的形成,在PD的发病过程中扮演重要的角色。虽然另外几个基因对应的蛋白或对应蛋白的功能未知,但已经在染色体上找到相应的位置。PD遗传学的研究将有助于PD的早期诊断.并且有可能为PD的治疗提供新的靶点。本文概述了PD相关基因的最新研究进展。
【Abstract】 The cause of Parkinson’s disease (PD) remains unknown, but genetic factors have recently been implicated in the etiology of the disease. So far, there have been 10 monogenes cloned or mapped on the chromosomes. The products of the identified genes, α-synuclein (PARK 1), parkin (PARK 2), and ubiquitin-C-hydrolase-L1 (PARK 5) play important roles in the course of Lewy body formation. Genetic information may prove to be useful in identifying new therapeutic targets and the preclinical phase of PD, allowing treatment to begin sooner. In this article we reviewed the latest progress in the study of PD-related genes.
【Key words】 Parkinson’ s disease; monogene; α-synuclein; parkin;
- 【文献出处】 中华神经医学杂志 ,Chinese Journal of Neuromedicine , 编辑部邮箱 ,2004年05期
- 【分类号】R742.5
- 【被引频次】5
- 【下载频次】371