Armas José Miguel Brito, Taoro-González Lucas, Fisher Elizabeth M C, Acevedo-Arozena Abraham
Unidad de Investigación Hospital Universitario de Canarias, Instituto de Investigación Sanitaria de Canarias, CIBERNED and ITB-ULL, Tenerife, Spain.
Department of Neuromuscular Diseases and Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, London, UK.
Mamm Genome. 2025 Apr 29. doi: 10.1007/s00335-025-10131-1.
TDP-43 is a normally nuclear RNA binding protein that under pathological conditions may be excluded from the nucleus and deposited in the cytoplasm in the form of insoluble polyubiquitinated and polyphosphorylated inclusions. This nuclear exclusion coupled with cytoplasmic accumulation is called TDP-43 pathology and contributes to a range of disorders collectively known as TDP-43 proteinopathies. These include the great majority of amyotrophic lateral sclerosis (ALS) cases, all limbic-predominant age-related TDP-43 encephalopathy (LATE), as well as up to 50% of frontotemporal lobar degeneration (FTLD) and Alzheimer's disease (AD) cases. Thus, TDP-43 pathology is a common feature underlying a wide range of neurodegenerative conditions. However, modelling it has proven to be challenging, particularly generating models with concomitant TDP-43 loss of nuclear function and cytoplasmic inclusions. Here, focussing exclusively on mice, we discuss TDP-43 genetic models in terms of the presence of TDP-43 pathology, and we consider other models with TDP-43 pathology due to mutations in disparate genes. We also consider manipulations aimed at producing TDP-43 pathology, and we look at potential strategies to develop new, much needed models to address the many outstanding questions regarding how and why TDP-43 protein leaves the nucleus and accumulates in the cytoplasm, causing downstream dysfunction and devastating disease.
TDP-43是一种正常情况下位于细胞核内的RNA结合蛋白,在病理条件下可能会被排除在细胞核外,并以不溶性多聚泛素化和多聚磷酸化包涵体的形式沉积在细胞质中。这种细胞核排除与细胞质积累相结合的现象被称为TDP-43病理学,它导致了一系列统称为TDP-43蛋白病的疾病。这些疾病包括绝大多数肌萎缩侧索硬化症(ALS)病例、所有以边缘系统为主的年龄相关性TDP-43脑病(LATE),以及高达50%的额颞叶痴呆(FTLD)和阿尔茨海默病(AD)病例。因此,TDP-43病理学是多种神经退行性疾病的一个共同特征。然而,事实证明对其进行建模具有挑战性,特别是生成同时具有TDP-43核功能丧失和细胞质包涵体的模型。在这里,我们仅聚焦于小鼠,从TDP-43病理学的存在方面讨论TDP-43基因模型,并考虑由于不同基因的突变而具有TDP-43病理学的其他模型。我们还考虑了旨在产生TDP-43病理学的操作,并探讨了开发新的、急需的模型的潜在策略,以解决许多关于TDP-43蛋白如何以及为何离开细胞核并在细胞质中积累,从而导致下游功能障碍和毁灭性疾病的悬而未决的问题。