Goedert M, Spillantini M G, Serpell L C, Berriman J, Smith M J, Jakes R, Crowther R A
Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, UK.
Philos Trans R Soc Lond B Biol Sci. 2001 Feb 28;356(1406):213-27. doi: 10.1098/rstb.2000.0767.
The most common degenerative diseases of the human brain are characterized by the presence of abnormal filamentous inclusions in affected nerve cells and glial cells. These diseases can be grouped into two classes, based on the identity of the major proteinaceous components of the filamentous assemblies. The filaments are made of either the microtubule-associated protein tau or the protein alpha-synuclein. Importantly, the discovery of mutations in the tau gene in familial forms of frontotemporal dementia and of mutations in the alpha-synuclein gene in familial forms of Parkinson's disease has established that dysfunction of tau protein and alpha-synuclein can cause neurodegeneration.
人类大脑最常见的退行性疾病的特征是在受影响的神经细胞和胶质细胞中存在异常丝状内含物。根据丝状聚集体主要蛋白质成分的特性,这些疾病可分为两类。这些细丝由微管相关蛋白tau或α-突触核蛋白组成。重要的是,在家族性额颞叶痴呆中tau基因突变的发现以及在家族性帕金森病中α-突触核蛋白基因突变的发现,证实了tau蛋白和α-突触核蛋白功能异常可导致神经退行性变。