Department of Pathology and Laboratory Medicine, Vancouver General Hospital, Vancouver, BC, Canada.
Lancet Neurol. 2010 Oct;9(10):995-1007. doi: 10.1016/S1474-4422(10)70195-2.
Abnormal intracellular protein aggregates comprise a key characteristic in most neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The seminal discoveries of accumulation of TDP-43 in most cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein in a small subset of patients with ALS and various FTD subtypes provide clear evidence that these disorders are related. The creation of a novel molecular classification of ALS and FTD based on the identity of the predominant protein abnormality has, therefore, been possible. The striking functional and structural similarities of TDP-43 and FUS, which are both DNA/RNA binding proteins, imply that abnormal RNA metabolism is a pivotal event, but the mechanisms leading to TDP-43 and FUS accumulation and the resulting neurodegeneration are currently unknown. Nonetheless, TDP-43 and FUS are promising candidates for the development of novel biomarker assays and targeted therapies.
异常的细胞内蛋白质聚集体是大多数神经退行性疾病的一个主要特征,包括肌萎缩侧索硬化症(ALS)和额颞叶痴呆症(FTD)。TDP-43 在大多数 ALS 病例和最常见的 FTD 形式——伴有泛素化包涵体的额颞叶变性中的积累的开创性发现,随后又发现 FUS 是一小部分 ALS 患者和各种 FTD 亚型的新型病理蛋白,这些都提供了明确的证据表明这些疾病是相关的。因此,基于主要蛋白质异常的特征,可以对 ALS 和 FTD 进行新型分子分类。TDP-43 和 FUS 的功能和结构非常相似,它们都是 DNA/RNA 结合蛋白,这表明异常的 RNA 代谢是一个关键事件,但导致 TDP-43 和 FUS 积累以及由此导致的神经退行性变的机制目前尚不清楚。尽管如此,TDP-43 和 FUS 是开发新型生物标志物检测和靶向治疗的有希望的候选物。