Akaree Nadeen, Secco Valentina, Levy-Adam Flonia, Younis Amal, Carra Serena, Shalgi Reut
Department of Biochemistry, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Italy.
FEBS J. 2025 Jan 5. doi: 10.1111/febs.17390.
Biomolecular condensates are dynamic membraneless compartments that regulate a myriad of cellular functions. A particular type of physiological condensate called stress granules (SGs) has gained increasing interest due to its role in the cellular stress response and various diseases. SGs, composed of several hundred RNA-binding proteins, form transiently in response to stress to protect mRNAs from translation and disassemble when the stress subsides. Interestingly, SGs contain several aggregation-prone proteins, such as TDP-43, FUS, hnRNPA1, and others, which are typically found in pathological inclusions seen in autopsy tissues from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients. Moreover, mutations in these genes lead to the familial form of ALS and FTD. This has led researchers to propose that pathological aggregation is seeded by aberrant SGs: SGs that fail to properly disassemble, lose their dynamic properties, and become pathological condensates which finally 'mature' into aggregates. Here, we discuss the evidence supporting this model for various ALS/FTD-associated proteins. We further continue to focus on molecular chaperone-mediated regulation of ALS/FTD-associated physiological condensates on one hand, and pathological condensates on the other. In addition to SGs, we review ALS/FTD-relevant nuclear condensates, namely paraspeckles, anisosomes, and nucleolar amyloid bodies, and discuss their emerging regulation by chaperones. As the majority of chaperoning mechanisms regulate physiological condensate disassembly, we highlight parallel themes of physiological and pathological condensation regulation across different chaperone families, underscoring the potential for early disease intervention.
生物分子凝聚体是调节众多细胞功能的动态无膜区室。一种称为应激颗粒(SGs)的特殊类型的生理凝聚体因其在细胞应激反应和各种疾病中的作用而越来越受到关注。SGs由数百种RNA结合蛋白组成,在应激时短暂形成,以保护mRNA不被翻译,并在应激消退时解体。有趣的是,SGs包含几种易于聚集的蛋白质,如TDP-43、FUS、hnRNPA1等,这些蛋白质通常存在于肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTD)患者尸检组织中的病理性包涵体中。此外,这些基因的突变导致家族性ALS和FTD。这使得研究人员提出,病理性聚集是由异常的SGs引发的:即那些未能正确解体、失去其动态特性并变成病理性凝聚体,最终“成熟”为聚集体的SGs。在这里,我们讨论支持该模型的各种与ALS/FTD相关蛋白的证据。我们进一步一方面继续关注分子伴侣介导的对与ALS/FTD相关的生理凝聚体的调节,另一方面关注对病理性凝聚体的调节。除了SGs,我们还综述了与ALS/FTD相关的核凝聚体,即副斑点、异染色质小体和核仁淀粉样体,并讨论它们由分子伴侣介导的新出现的调节。由于大多数分子伴侣机制调节生理凝聚体的解体,我们强调了不同分子伴侣家族在生理和病理凝聚调节方面的平行主题,强调了早期疾病干预的潜力。