Inoshita Tsuyoshi, Cui Changxu, Hattori Nobutaka, Imai Yuzuru
Department of Research for Parkinson's Disease, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan.
J Genet. 2018 Jul;97(3):715-725.
Parkinson's disease (PD), the second most common neurodegenerative disease after Alzheimer's disease, develops sporadically, and its cause is unknown. However, 5-10% of PD cases are inherited as monogenic diseases, which provides a chance to understand the molecular mechanisms underlying neurodegeneration. Over 20 causative genes have already been identified and are being characterized. These PD-associated genes are broadly classified into two groups: genes involved in mitochondrial functions and genes related to membrane dynamics such as intracellular vesicle transport and the lysosomal pathway. In this review, we summarize the latest findings on the mechanism by which members of the latter group of PD-associated genes regulate membrane dynamics, and we discuss how mutations of these genes lead to dopaminergic neurodegeneration.
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，呈散发性发病，病因不明。然而，5% - 10%的帕金森病病例是作为单基因疾病遗传的，这为了解神经退行性变的分子机制提供了机会。目前已经鉴定出20多个致病基因并对其进行了表征。这些与帕金森病相关的基因大致分为两类：参与线粒体功能的基因和与膜动力学相关的基因，如细胞内囊泡运输和溶酶体途径。在这篇综述中，我们总结了后一类与帕金森病相关基因成员调节膜动力学机制的最新发现，并讨论了这些基因的突变如何导致多巴胺能神经元变性。
