Chung K K, Zhang Y, Lim K L, Tanaka Y, Huang H, Gao J, Ross C A, Dawson V L, Dawson T M
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Nat Med. 2001 Oct;7(10):1144-50. doi: 10.1038/nm1001-1144.
Parkinson disease is a common neurodegenerative disorder characterized by the loss of dopaminergic neurons and the presence of intracytoplasmic-ubiquitinated inclusions (Lewy bodies). Mutations in alpha-synuclein (A53T, A30P) and parkin cause familial Parkinson disease. Both these proteins are found in Lewy bodies. The absence of Lewy bodies in patients with parkin mutations suggests that parkin might be required for the formation of Lewy bodies. Here we show that parkin interacts with and ubiquitinates the alpha-synuclein-interacting protein, synphilin-1. Co-expression of alpha-synuclein, synphilin-1 and parkin result in the formation of Lewy-body-like ubiquitin-positive cytosolic inclusions. We further show that familial-linked mutations in parkin disrupt the ubiquitination of synphilin-1 and the formation of the ubiquitin-positive inclusions. These results provide a molecular basis for the ubiquitination of Lewy-body-associated proteins and link parkin and alpha-synuclein in a common pathogenic mechanism through their interaction with synphilin-1.
帕金森病是一种常见的神经退行性疾病,其特征为多巴胺能神经元丧失以及胞质内泛素化包涵体(路易小体)的存在。α-突触核蛋白(A53T、A30P)和帕金蛋白的突变会导致家族性帕金森病。这两种蛋白都存在于路易小体中。帕金蛋白突变患者不存在路易小体,这表明帕金蛋白可能是路易小体形成所必需的。在此我们表明,帕金蛋白与α-突触核蛋白相互作用蛋白——突触核蛋白-1相互作用并使其泛素化。α-突触核蛋白、突触核蛋白-1和帕金蛋白的共表达导致形成路易小体样泛素阳性胞质包涵体。我们进一步表明,帕金蛋白中的家族性相关突变会破坏突触核蛋白-1的泛素化以及泛素阳性包涵体的形成。这些结果为路易小体相关蛋白的泛素化提供了分子基础,并通过帕金蛋白和α-突触核蛋白与突触核蛋白-1的相互作用,将它们联系在一个共同的致病机制中。