Wood-Kaczmar A, Gandhi S, Wood N W
Department of Molecular Neuroscience, Institute of Neurology, and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Trends Mol Med. 2006 Nov;12(11):521-8. doi: 10.1016/j.molmed.2006.09.007. Epub 2006 Oct 5.
Parkinson's disease (PD) is a neurodegenerative disease that is both common and incurable. The majority of cases are sporadic and of unknown origin but several genes have been identified that, when mutated, give rise to rare, familial forms of the disease. The principal genes that have been shown to cause PD are alpha-synuclein (SNCA), parkin, leucine-rich repeat kinase 2 (LRRK2), PTEN-induced putative kinase 1 (PINK1) and DJ-1. Here, we discuss what has been learnt from the study of these genes and what has been elucidated of the molecular pathways that lead to cell degeneration. Of importance is what these molecular events and pathways tell scientists of the common sporadic form of PD. Although complete knowledge of these genes' functions remains elusive, recent work implicates abnormal protein accumulation, protein phosphorylation, mitochondrial dysfunction and oxidative stress as common pathways to PD pathogenesis.
帕金森病（PD）是一种常见且无法治愈的神经退行性疾病。大多数病例为散发性，病因不明，但已鉴定出多个基因，这些基因发生突变时会引发罕见的家族性疾病形式。已证明可导致帕金森病的主要基因有α-突触核蛋白（SNCA）、帕金蛋白、富含亮氨酸重复激酶2（LRRK2）、PTEN诱导的假定激酶1（PINK1）和DJ-1。在此，我们讨论从这些基因研究中所了解到的情况，以及导致细胞变性的分子途径已阐明的内容。重要的是，这些分子事件和途径能让科学家了解常见散发性帕金森病的哪些方面。尽管对这些基因功能的全面了解仍然难以捉摸，但最近的研究表明，异常蛋白质积累、蛋白质磷酸化、线粒体功能障碍和氧化应激是帕金森病发病机制的常见途径。
