Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
The Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nat Rev Neurol. 2020 Apr;16(4):199-212. doi: 10.1038/s41582-020-0333-7. Epub 2020 Mar 23.
Most neurodegenerative diseases are characterized by the intracellular or extracellular aggregation of misfolded proteins such as amyloid-β and tau in Alzheimer disease, α-synuclein in Parkinson disease, and TAR DNA-binding protein 43 in amyotrophic lateral sclerosis. Accumulating evidence from both human studies and disease models indicates that intercellular transmission and the subsequent templated amplification of these misfolded proteins are involved in the onset and progression of various neurodegenerative diseases. The misfolded proteins that are transferred between cells are referred to as 'pathological seeds'. Recent studies have made exciting progress in identifying the characteristics of different pathological seeds, particularly those isolated from diseased brains. Advances have also been made in our understanding of the molecular mechanisms that regulate the transmission process, and the influence of the host cell on the conformation and properties of pathological seeds. The aim of this Review is to summarize our current knowledge of the cell-to-cell transmission of pathological proteins and to identify key questions for future investigation.
大多数神经退行性疾病的特征是细胞内或细胞外聚集错误折叠的蛋白质,如阿尔茨海默病中的淀粉样β和tau,帕金森病中的α-突触核蛋白,以及肌萎缩侧索硬化症中的 TAR DNA 结合蛋白 43。来自人类研究和疾病模型的越来越多的证据表明,这些错误折叠蛋白质的细胞间传递和随后的模板扩增参与了各种神经退行性疾病的发病和进展。在细胞之间转移的错误折叠蛋白质被称为“病理性种子”。最近的研究在鉴定不同病理性种子的特征方面取得了令人兴奋的进展,特别是那些从患病大脑中分离出来的病理性种子。我们对调节传递过程的分子机制以及宿主细胞对病理性种子构象和性质的影响的理解也取得了进展。本综述的目的是总结我们目前对病理性蛋白细胞间传递的认识,并确定未来研究的关键问题。