TDP-43小鼠病理模型的挑战。

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
José Miguel Brito Armas, Lucas Taoro-González, Elizabeth M C Fisher, Abraham Acevedo-Arozena
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引用次数: 0

摘要

TDP-43是一种正常核RNA结合蛋白,在病理条件下可能被排除在细胞核外,并以不溶性多泛素化和多磷酸化包涵体的形式沉积在细胞质中。这种核排斥加上细胞质积累被称为TDP-43病理,并导致一系列疾病,统称为TDP-43蛋白病。这些包括绝大多数肌萎缩性侧索硬化症(ALS)病例,所有边缘突出的年龄相关TDP-43脑病(LATE),以及高达50%的额颞叶变性(FTLD)和阿尔茨海默病(AD)病例。因此,TDP-43病理是广泛的神经退行性疾病的共同特征。然而,它的建模已被证明是具有挑战性的,特别是生成伴随TDP-43细胞核功能和细胞质内含物丧失的模型。在这里,我们只关注小鼠,根据TDP-43病理的存在来讨论TDP-43遗传模型,并考虑由于不同基因突变而导致的TDP-43病理的其他模型。我们还考虑了旨在产生TDP-43病理的操作,并研究了开发新的急需模型的潜在策略,以解决关于TDP-43蛋白如何以及为什么离开细胞核并在细胞质中积累,导致下游功能障碍和毁灭性疾病的许多悬而未决的问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Challenges of modelling TDP-43 pathology in mice.

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.

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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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