Mata Ignacio F, Lockhart Paul J, Farrer Matthew J
Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA.
Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R127-33. doi: 10.1093/hmg/ddh089. Epub 2004 Feb 19.
The genetic epidemiology of late-onset idiopathic Parkinson's disease (PD) and 'parkin-proven' parkinsonism (AR-JP) are limited. The clinical phenotype, prognosis and treatments are similar although PD is prevalent while AR-JP is rare. Molecular genetic and functional analysis suggests the E3 ubiquitin protein ligase activity of parkin, and the ubiquitin-proteosomal pathway, is central to disease pathogenesis. Herein, we compare and contrast PD and AR-JP and discuss the implications of recent data about parkin's genomic organization, regulation and function.
迟发性特发性帕金森病（PD）和“经帕金蛋白证实的”帕金森综合征（AR-JP）的遗传流行病学研究有限。尽管PD较为常见而AR-JP罕见，但它们的临床表型、预后和治疗方法相似。分子遗传学和功能分析表明，帕金蛋白的E3泛素蛋白连接酶活性以及泛素-蛋白酶体途径在疾病发病机制中起核心作用。在此，我们比较并对比了PD和AR-JP，并讨论了有关帕金蛋白基因组组织、调控和功能的最新数据的意义。
