论文部分内容阅读
帕金森病是一种常见的以中老年慢性神经系统变性为主的疾病,以黑质多巴胺能神经元变性缺失和路易小体形成为病理特征。随着帕金森病相关易感基因的发现,人们意识到遗传因素可能在帕金森病的发病中起重要作用。本文就近年来已确定的α-synuclein、Parkin、UCH-L1、DJ-1、PINK1和LRRK2等6种帕金森病相关易感基因及其突变的研究近况做一简要综述。
Parkinson’s disease is a common disease of middle-aged and elderly with chronic degeneration of the nervous system. The degeneration of substantia nigra dopaminergic neurons and the formation of Lewy bodies are pathological features. With the discovery of susceptibility genes associated with Parkinson’s disease, it is recognized that genetic factors may play an important role in the pathogenesis of Parkinson’s disease. In this review, we reviewed the recent progress in the studies of six Parkinson’s disease-related susceptibility genes and their mutations in α-synuclein, Parkin, UCH-L1, DJ-1, PINK1 and LRRK2.