Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan.
J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):430-6. doi: 10.1136/jnnp-2011-301205. Epub 2011 Dec 3.
Parkinson disease (PD) is a neurodegenerative disease characterised by progressive disturbances in motor, autonomic and psychiatric functions. Much has been learnt since the disease entity was established in 1817. Although there are well established treatments that can alleviate the symptoms of PD, a pressing need exists to improve our understanding of the pathogenesis to enable development of disease modifying treatments. Ten responsible genes for PD have been identified and recent progress in molecular research on the protein functions of the genes provides new insights into the pathogenesis of hereditary as well as sporadic PD. Also, genome wide association studies, a powerful approach to identify weak effects of common genetic variants in common diseases, have identified a number of new possible PD associated genes, including PD genes previously detected. However, there is still much to learn about the interactions of the gene products, and important insights may come from chemical and genetic screens. In this review, an overview is provided of the molecular pathogenesis and genetics of PD, focusing particularly on the functions of the PD related gene products with marked research progress.
帕金森病(PD)是一种神经退行性疾病,其特征是运动、自主和精神功能的进行性障碍。自 1817 年确立该疾病实体以来,已经有了很多了解。尽管有很好的治疗方法可以缓解 PD 的症状,但迫切需要提高我们对发病机制的理解,以开发出能够改变疾病的治疗方法。已经确定了 10 个导致 PD 的责任基因,最近对这些基因的蛋白质功能的分子研究进展为遗传性和散发性 PD 的发病机制提供了新的见解。此外,全基因组关联研究是一种识别常见疾病中常见遗传变异微弱影响的强大方法,已经确定了一些新的可能与 PD 相关的基因,包括之前检测到的 PD 基因。然而,关于基因产物的相互作用仍有很多需要了解,化学和遗传筛选可能会提供重要的见解。在这篇综述中,提供了 PD 的分子发病机制和遗传学概述,特别关注具有显著研究进展的 PD 相关基因产物的功能。