Koch Rafael, Nagoshi Emi
Department of Genetics and Evolution and Institute of Genetics and Genomics of Geneva (iGE3), University of Geneva, Geneva, Switzerland.
Eur J Neurosci. 2025 Jan;61(1):e16632. doi: 10.1111/ejn.16632. Epub 2024 Dec 17.
The misfolding and aggregation of TAR DNA binding protein-43 (TDP-43), leading to the formation of cytoplasmic inclusions, emerge as a key pathological feature in a spectrum of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD). TDP-43 shuttles between the nucleus and cytoplasm but forms nuclear bodies (NBs) in response to stress. These NBs partially colocalise with nuclear speckles and paraspeckles that sequester RNAs and proteins, thereby regulating many cellular functions. The laboratory of Steven Brown has recently found that the non-POU domain-containing octamer-binding protein (NONO), a component of paraspeckles, forms novel nuclear speckle-like structures in mouse cortical neurons in response to stress and sleep deprivation. These findings suggest the possibility of a functional link between NONO and TDP-43, potentially contributing to TDP-43 proteinopathy. Here, we demonstrate that pathological phenotypes caused by TDP-43 gain of function-locomotor defects and life span shortening-are exacerbated by silencing the Drosophila homolog of NONO, no on or off transient A (NonA). Additionally, NonA silencing results in an increase in nuclear TDP-43 NBs. These results provide supporting evidence for the functional link between NONO and TDP-43 and lay the foundation for dissecting underlying mechanisms.
TAR DNA结合蛋白43(TDP - 43)的错误折叠和聚集会导致细胞质内含物的形成,这已成为包括肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTLD)在内的一系列神经退行性疾病的关键病理特征。TDP - 43在细胞核和细胞质之间穿梭,但在应激时会形成核体(NBs)。这些核体部分与封存RNA和蛋白质的核斑和副核斑共定位,从而调节许多细胞功能。史蒂文·布朗实验室最近发现,作为副核斑成分的含非POU结构域的八聚体结合蛋白(NONO),在应激和睡眠剥夺时会在小鼠皮质神经元中形成新的核斑样结构。这些发现表明NONO与TDP - 43之间可能存在功能联系,这可能导致TDP - 43蛋白病。在此,我们证明,通过沉默果蝇NONO同源物no on or off transient A(NonA),TDP - 43功能获得引起的病理表型——运动缺陷和寿命缩短——会加剧。此外,沉默NonA会导致核内TDP - 43核体增加。这些结果为NONO与TDP - 43之间的功能联系提供了支持证据,并为剖析潜在机制奠定了基础。