Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland 20982-3707, USA.
Mov Disord. 2010;25 Suppl 1(Suppl 1):S44-8. doi: 10.1002/mds.22713.
Genetic forms of parkinsonism are interesting for two particular reasons. First, finding a gene identifies a cause for a disease that would otherwise be unexplained. Second, finding several genes for the same disorder allows us to reconstruct molecular pathways that, in the example of Parkinson's disease, are be associated with the survival of dopamine neurons in the substantia nigra. Two rare causes of parkinsonism, DJ-1 and PINK1, are associated with mitochondria. This organelle has long been linked with Parkinson's disease, and recent results are starting to show how mutations impact mitochondrial function. In this short review, I will discuss how we can use some of this information to understand why it is that neurons become dysfunctional in PD.
帕金森病的遗传形式有两个特别的有趣之处。首先，找到一个基因可以为原本无法解释的疾病确定病因。其次，找到几个导致同一疾病的基因可以让我们重建分子途径，以帕金森病为例，该途径与黑质中多巴胺神经元的存活有关。两种罕见的帕金森病原因，DJ-1 和 PINK1，与线粒体有关。这个细胞器长期以来一直与帕金森病有关，最近的研究结果开始显示突变如何影响线粒体功能。在这篇简短的综述中，我将讨论我们如何利用这些信息来理解为什么神经元在 PD 中会出现功能障碍。
