Duke University Medical Center, DUEC 3802, 2351 Erwin Road, Durham, NC, 27710, USA.
Cell Mol Life Sci. 2019 Jun;76(12):2247-2273. doi: 10.1007/s00018-019-03029-0. Epub 2019 Feb 11.
The nuclear pore is the gatekeeper of nucleocytoplasmic transport and signaling through which a vast flux of information is continuously exchanged between the nuclear and cytoplasmic compartments to maintain cellular homeostasis. A unifying and organizing principle has recently emerged that cements the notion that several forms of amyotrophic lateral sclerosis (ALS), and growing number of other neurodegenerative diseases, co-opt the dysregulation of nucleocytoplasmic transport and that this impairment is a pathogenic driver of neurodegeneration. The understanding of shared pathomechanisms that underpin neurodegenerative diseases with impairments in nucleocytoplasmic transport and how these interface with current concepts of nucleocytoplasmic transport is bound to illuminate this fundamental biological process in a yet more physiological context. Here, I summarize unresolved questions and evidence and extend basic and critical concepts and challenges of nucleocytoplasmic transport and its role in the pathogenesis of neurodegenerative diseases, such as ALS. These principles will help to appreciate the roles of nucleocytoplasmic transport in the pathogenesis of ALS and other neurodegenerative diseases, and generate a framework for new ideas of the susceptibility of motoneurons, and possibly other neurons, to degeneration by dysregulation of nucleocytoplasmic transport.
核孔是核质转运和信号的守门员,通过它,大量信息在核质隔室之间不断交换,以维持细胞内稳态。最近出现了一个统一的组织原则,它巩固了这样一种观点,即几种形式的肌萎缩侧索硬化症(ALS),以及越来越多的其他神经退行性疾病,共同采用核质转运的失调,而这种损伤是神经退行性变的致病驱动因素。理解核质转运受损的神经退行性疾病的共同发病机制,以及这些机制如何与核质转运的现有概念相互作用,必将在更生理的背景下阐明这一基本的生物学过程。在这里,我总结了未解决的问题和证据,并扩展了核质转运的基本和关键概念以及其在神经退行性疾病(如 ALS)发病机制中的作用方面的挑战。这些原则将有助于理解核质转运在 ALS 和其他神经退行性疾病发病机制中的作用,并为核质转运失调导致运动神经元(可能还有其他神经元)易变性的新观点提供框架。