Kubo Shin-ichiro, Hattori Nobutaka, Mizuno Yoshikuni
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Mov Disord. 2006 Jul;21(7):885-93. doi: 10.1002/mds.20841.
Parkinson's disease (PD) is a progressive neurodegenerative disease caused by loss of dopaminergic neurons in the substantia nigra pars compacta. Although the etiology of PD remains unclear, it is now clear that genetic factors contribute to the pathogenesis of the disease. Recently, several causative genes have been identified in monogenic forms of PD. Accumulating evidence indicates that their gene products play important roles in mitochondrial function, oxidative stress response, and the ubiquitin-proteasome system, which are also implicated in sporadic PD, suggesting that these gene products share a common pathway to nigral degeneration in both familial and sporadic PD. Here, we review recent advances in knowledge about genes associated with recessive PD, including parkin, PINK1, and DJ-1.
帕金森病(PD)是一种由黑质致密部多巴胺能神经元丧失引起的进行性神经退行性疾病。尽管PD的病因尚不清楚,但现在很明确的是遗传因素参与了该疾病的发病机制。最近,在单基因形式的PD中已经鉴定出几个致病基因。越来越多的证据表明,它们的基因产物在线粒体功能、氧化应激反应和泛素-蛋白酶体系统中发挥重要作用,而这些也与散发性PD有关,这表明这些基因产物在家族性和散发性PD的黑质变性中共享一条共同途径。在此,我们综述了关于与隐性PD相关基因的最新研究进展,包括帕金蛋白、PTEN诱导激酶1(PINK1)和DJ-1。