Tan Jeanne M M, Dawson Ted M
Institute for Cell Engineering, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Neuron. 2006 May 18;50(4):527-9. doi: 10.1016/j.neuron.2006.05.003.
Mutations in the PTEN-induced putative kinase 1 (PINK1) are a common cause of autosomal recessive Parkinson's disease. In a recent issue of Nature, two independent reports by and show that loss of Drosophila PINK1 leads to defects in mitochondrial function resulting in male sterility, apoptotic muscle degeneration, and minor loss of dopamine neurons that is rescued by overexpression of the ubiquitin E3 ligase, parkin. Thus, PINK1 and parkin appear to function in a common pathway suggesting a convergence of the two genes most commonly associated with autosomal recessive PD.
PTEN诱导的假定激酶1(PINK1)突变是常染色体隐性帕金森病的常见病因。在最近一期的《自然》杂志上,两篇独立的报告表明,果蝇PINK1缺失会导致线粒体功能缺陷,从而导致雄性不育、凋亡性肌肉退化以及多巴胺能神经元轻微缺失,而泛素E3连接酶parkin的过表达可挽救这些症状。因此,PINK1和parkin似乎在一条共同的信号通路中发挥作用,这表明两个最常与常染色体隐性帕金森病相关的基因存在共同作用机制。