Boğaziçi University, Molecular Biology and Genetics Department, Neurodegeneration Research Laboratory, Istanbul, Turkey.
Anat Rec (Hoboken). 2009 Dec;292(12):1893-901. doi: 10.1002/ar.20968.
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. A progressive movement disorder typified by the production of bradykinesia, tremor, rigidity, and impairment of postural reflexes, PD is characterized by a depletion of dopamine in the striatum. For the last decade, several Mendelian forms of PD have been identified. Mutations in these genes potentially lead to autosomal dominant (alpha-synuclein and LRRK2), or autosomal recessive PD (Parkin, PINK1, DJ1, and ATP13A2). This article will spotlight these six distinct genes unambiguously associated with Mendelian PD and the function of their encoded proteins.
帕金森病(PD)是仅次于阿尔茨海默病的第二常见神经退行性疾病。一种以运动徐缓、震颤、僵硬和姿势反射受损为特征的进行性运动障碍,PD 的特征是纹状体中多巴胺的耗竭。在过去的十年中,已经确定了几种孟德尔形式的 PD。这些基因突变可能导致常染色体显性(α-突触核蛋白和 LRRK2)或常染色体隐性 PD(Parkin、PINK1、DJ1 和 ATP13A2)。本文将重点介绍这六个与孟德尔 PD 明确相关的基因及其编码蛋白的功能。