Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health (NIH), Building 35, Room 1A116, MSC 3707, 35 Convent Drive, Bethesda, Maryland 20982-3707, USA.
Nat Rev Neurosci. 2010 Dec;11(12):791-7. doi: 10.1038/nrn2935. Epub 2010 Nov 19.
Parkinson's disease, like many common age-related conditions, is now recognized to have a substantial genetic component. Here, I discuss how mutations in a large complex gene--leucine-rich repeat kinase 2 (LRRK2)--affect protein function, and I review recent evidence that LRRK2 mutations affect pathways that involve other proteins that have been implicated in Parkinson's disease, specifically α-synuclein and tau. These concepts can be used to understand disease processes and to develop therapeutic opportunities for the treatment of Parkinson's disease.
帕金森病与许多常见的与年龄相关的疾病一样，现在被认为具有很大的遗传成分。在这里，我将讨论大的复杂基因——富亮氨酸重复激酶 2（LRRK2）中的突变如何影响蛋白质功能，并回顾最近的证据，表明 LRRK2 突变影响了涉及其他与帕金森病有关的蛋白质的途径，特别是α-突触核蛋白和tau。这些概念可用于了解疾病过程，并为治疗帕金森病开发治疗机会。
