Department of Neurology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, Japan.
Department of Pathology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, Japan.
Sci Transl Med. 2017 Nov 8;9(415). doi: 10.1126/scitranslmed.aah5436.
Advanced genetic approaches have accelerated the identification of causative genes linked to the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the disease-related proteins encoded by these genes form aggregates in the cellular machineries that regulate RNA and protein quality control in cells. Cross-talk among the signaling pathways governing these machineries leads to pathological cascades mediated by the accumulation of mutant RNA binding proteins. We outline the molecular basis of ALS and FTD pathogenesis and discuss the prospects for therapeutic strategies to treat these diseases.
先进的遗传方法加速了与神经退行性疾病肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTD)相关的致病基因的鉴定。这些基因编码的大多数与疾病相关的蛋白质在调节细胞中 RNA 和蛋白质质量控制的细胞机制中形成聚集体。控制这些机制的信号通路之间的串扰导致由突变 RNA 结合蛋白积累介导的病理级联反应。我们概述了 ALS 和 FTD 发病机制的分子基础,并讨论了治疗这些疾病的治疗策略的前景。