Babcock Daniel T, Ganetzky Barry
Laboratory of Genetics, University of Wisconsin, Madison, WI 53706
Proc Natl Acad Sci U S A. 2015 Sep 29;112(39):E5427-33. doi: 10.1073/pnas.1516217112. Epub 2015 Sep 8.
A key feature of many neurodegenerative diseases is the accumulation and subsequent aggregation of misfolded proteins. Recent studies have highlighted the transcellular propagation of protein aggregates in several major neurodegenerative diseases, although the precise mechanisms underlying this spreading and how it relates to disease pathology remain unclear. Here we use a polyglutamine-expanded form of human huntingtin (Htt) with a fluorescent tag to monitor the spreading of aggregates in the Drosophila brain in a model of Huntington's disease. Upon expression of this construct in a defined subset of neurons, we demonstrate that protein aggregates accumulate at synaptic terminals and progressively spread throughout the brain. These aggregates are internalized and accumulate within other neurons. We show that Htt aggregates cause non-cell-autonomous pathology, including loss of vulnerable neurons that can be prevented by inhibiting endocytosis in these neurons. Finally we show that the release of aggregates requires N-ethylmalemide-sensitive fusion protein 1, demonstrating that active release and uptake of Htt aggregates are important elements of spreading and disease progression.
许多神经退行性疾病的一个关键特征是错误折叠蛋白的积累及随后的聚集。最近的研究突出了蛋白聚集体在几种主要神经退行性疾病中的跨细胞传播,尽管这种传播的精确机制以及它与疾病病理学的关系仍不清楚。在这里,我们使用带有荧光标签的人亨廷顿蛋白(Htt)的聚谷氨酰胺扩展形式,在亨廷顿病模型中监测果蝇大脑中聚集体的传播。在特定神经元亚群中表达这种构建体后,我们证明蛋白聚集体在突触末端积累,并逐渐扩散到整个大脑。这些聚集体被内化并在其他神经元内积累。我们表明,Htt聚集体会导致非细胞自主性病理,包括脆弱神经元的丧失,而通过抑制这些神经元的内吞作用可以预防这种情况。最后,我们表明聚集体的释放需要N - 乙基马来酰亚胺敏感融合蛋白1,这表明Htt聚集体的主动释放和摄取是传播和疾病进展的重要因素。