Ross Christopher A, Poirier Michelle A
Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Ross Research Building, Room 618, 720 Rutland Avenue, Baltimore, Maryland 21205, USA.
Nat Med. 2004 Jul;10 Suppl:S10-7. doi: 10.1038/nm1066.
Neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS) and prion diseases are increasingly being realized to have common cellular and molecular mechanisms including protein aggregation and inclusion body formation. The aggregates usually consist of fibers containing misfolded protein with a beta-sheet conformation, termed amyloid. There is partial but not perfect overlap among the cells in which abnormal proteins are deposited and the cells that degenerate. The most likely explanation is that inclusions and other visible protein aggregates represent an end stage of a molecular cascade of several steps, and that earlier steps in the cascade may be more directly tied to pathogenesis than the inclusions themselves. For several diseases, genetic variants assist in explaining the pathogenesis of the more common sporadic forms and developing mouse and other models. There is now increased understanding of the pathways involved in protein aggregation, and some recent clues have emerged as to the molecular mechanisms of cellular toxicity. These are leading to approaches toward rational therapeutics.
诸如阿尔茨海默病(AD)、帕金森病(PD)、亨廷顿病(HD)、肌萎缩侧索硬化症(ALS)和朊病毒病等神经退行性疾病,越来越多地被认识到具有包括蛋白质聚集和包涵体形成在内的共同细胞和分子机制。这些聚集体通常由含有具有β-折叠构象的错误折叠蛋白质的纤维组成,称为淀粉样蛋白。异常蛋白质沉积的细胞和发生退化的细胞之间存在部分但并非完全重叠。最可能的解释是,包涵体和其他可见的蛋白质聚集体代表了一个多步骤分子级联反应的终末阶段,并且该级联反应的早期步骤可能比包涵体本身与发病机制的联系更为直接。对于几种疾病而言,基因变异有助于解释更常见的散发性形式的发病机制,并有助于开发小鼠及其他模型。目前对蛋白质聚集所涉及的途径有了更多了解,并且最近出现了一些关于细胞毒性分子机制的线索。这些正在引导人们走向合理治疗的方法。