Sun Gangyu, Li Xiang, Hu Jiaojiao, Yang Tianbin, Liu Cong, Wang Zhizhi, Li Dan, Xu Wenqing
School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China.
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, China.
Proc Natl Acad Sci U S A. 2025 Sep 9;122(36):e2505320122. doi: 10.1073/pnas.2505320122. Epub 2025 Sep 3.
Pathological aggregation of transactive response DNA binding protein of 43 kDa (TDP-43), primarily driven by its low-complexity domain, is closely associated with various neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Despite the therapeutic potential of preventing TDP-43 aggregation, no effective small molecule or biomacromolecule therapeutics have been successfully developed so far. Here, we introduce a protein design strategy that yields de novo designed proteins capable of stabilizing the key amyloidogenic region of TDP-43 in its native helical conformation with nanomolar binding affinity. The binding mechanism was further characterized by the NMR and mutagenesis study. More importantly, we demonstrated that our designed protein binders efficiently reduced TDP-43 amyloid aggregation both in vitro and in cells. Our work provides a strategy for designing protein stabilizer of the native conformation of pathological proteins for preventing its amyloid aggregation, shedding light on the development of potential therapeutic approaches for ALS, FTLD, and other protein aggregation-associated diseases.
43 kDa反式激活反应DNA结合蛋白(TDP - 43)的病理性聚集主要由其低复杂性结构域驱动,与包括肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTLD)在内的多种神经退行性疾病密切相关。尽管具有预防TDP - 43聚集的治疗潜力,但迄今为止尚未成功开发出有效的小分子或生物大分子疗法。在此,我们介绍一种蛋白质设计策略,该策略能产生从头设计的蛋白质,这些蛋白质能够以纳摩尔结合亲和力将TDP - 43的关键淀粉样蛋白生成区域稳定在其天然螺旋构象中。通过核磁共振(NMR)和诱变研究进一步表征了结合机制。更重要的是,我们证明了我们设计的蛋白质结合剂在体外和细胞内均能有效减少TDP - 43淀粉样蛋白聚集。我们的工作为设计病理性蛋白质天然构象的蛋白质稳定剂以防止其淀粉样蛋白聚集提供了一种策略,为ALS、FTLD和其他与蛋白质聚集相关疾病的潜在治疗方法的开发提供了思路。