Barbieri Edward M, Linsenmeier Miriam, Whiteman Katherine R, Cheng Yan, Braganza Sylvanne, Copley Katie E, Miranda-Castrodad Paola, Lewis Brennen, Villafañe Kevin, Amado Defne A, Davidson Beverly L, Shorter James
Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104. U.S.A.
Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104. U.S.A.
bioRxiv. 2025 May 10:2025.05.10.653282. doi: 10.1101/2025.05.10.653282.
Cytoplasmic aggregation and concomitant dysfunction of the prion-like, RNA-binding protein TDP-43 underpin several fatal neurodegenerative diseases, including amyotrophic lateral sclerosis. To elucidate endogenous defenses, we systematically scoured the entire human Hsp70 network for buffers of TDP-43 toxicity. We identify 30 J-domain proteins (2 DNAJAs, 10 DNAJBs, 18 DNAJCs), 6 Hsp70s, and 5 nucleotide-exchange factors that mitigate TDP-43 toxicity. Specific chaperones reduce TDP-43 aggregate burden and detoxify diverse synthetic or disease-linked TDP-43 variants. Sequence-activity mapping unveiled unexpected, modular mechanisms of chaperone-mediated protection. Typically, DNAJBs collaborate with Hsp70 to suppress TDP-43 toxicity, whereas DNAJCs act independently. In human cells, specific chaperones increase TDP-43 solubility and enhance viability under proteotoxic stress. Strikingly, spliceosome-associated DNAJC8 and DNAJC17 retain TDP-43 in the nucleus and promote liquid-phase behavior. Thus, we disambiguate a diverse chaperone arsenal embedded in the human proteostasis network that counters TDP-43 toxicity and illuminate mechanistic gateways for therapeutic intervention in TDP-43 proteinopathies.
朊病毒样RNA结合蛋白TDP - 43的细胞质聚集及伴随的功能障碍是包括肌萎缩侧索硬化症在内的几种致命神经退行性疾病的基础。为了阐明内源性防御机制,我们系统地在整个人类Hsp70网络中搜寻TDP - 43毒性的缓冲因子。我们鉴定出30种J结构域蛋白(2种DNAJA、10种DNAJB、18种DNAJC)、6种Hsp70和5种核苷酸交换因子,它们可减轻TDP - 43的毒性。特定的分子伴侣可减轻TDP - 43的聚集负担,并使多种合成的或与疾病相关的TDP - 43变体解毒。序列 - 活性图谱揭示了分子伴侣介导保护作用的意外模块化机制。通常,DNAJB与Hsp70协同作用以抑制TDP - 43的毒性,而DNAJC则独立发挥作用。在人类细胞中,特定的分子伴侣可增加TDP - 43的溶解度,并在蛋白毒性应激下提高细胞活力。引人注目的是,与剪接体相关的DNAJC8和DNAJC17将TDP - 43保留在细胞核中并促进液相行为。因此,我们明确了人类蛋白质稳态网络中用于对抗TDP - 43毒性的多种分子伴侣库,并阐明了TDP - 43蛋白病治疗干预的机制途径。