Garage Brain Science, B201, Central Taiwan Innovation Campus, Ministry of Economic Affairs, Nantou City, 540219, Taiwan.
Yee Fan Med Inc, Temple City, CA, 91780, USA.
Sci Rep. 2024 Feb 26;14(1):4620. doi: 10.1038/s41598-024-55229-9.
A group of misfolded prone-to-aggregate domains in disease-causing proteins has recently been shown to adopt unique conformations that play a role in fundamental biological processes. These processes include the formation of membrane-less sub-organelles, alternative splicing, and gene activation and silencing. The cellular responses are regulated by the conformational switching of prone-to-aggregate domains, independently of changes in RNA or protein expression levels. Given this, targeting the misfolded states of disease-causing proteins to redirect them towards their physiological conformations is emerging as an effective therapeutic strategy for diseases caused by protein misfolding. In our study, we successfully identified baicalein as a potent structure-correcting agent. Our findings demonstrate that baicalein can reconfigure existing TDP-43 aggregates into an oligomeric state both in vitro and in disease cells. This transformation effectively restores the bioactivity of misfolded TDP-43 proteins in cellular models of ALS and premature aging in progeria. Impressively, in progeria cells where defective lamin A interferes with TDP-43-mediated exon skipping, the formation of pathological TDP-43 aggregates is promoted. Baicalein, however, restores the functionality of TDP-43 and mitigates nuclear shape defects in these laminopathic cells. This establishes a connection between lamin A and TDP-43 in the context of aging. Our findings suggest that targeting physiological TDP-43 oligomers could offer a promising therapeutic avenue for treating aging-associated disorders.
一组在致病蛋白中易于聚集的错误折叠结构域最近被证明可以采用独特的构象,这些构象在基本的生物学过程中发挥作用。这些过程包括无膜亚细胞器的形成、选择性剪接以及基因激活和沉默。细胞反应受到易于聚集结构域的构象转换调节,而不依赖于 RNA 或蛋白质表达水平的变化。鉴于此,针对致病蛋白的错误折叠状态,将其重新导向生理构象,这已成为治疗由蛋白错误折叠引起的疾病的有效治疗策略。在我们的研究中,我们成功地鉴定出黄芩素是一种有效的结构矫正剂。我们的研究结果表明,黄芩素可以在体外和疾病细胞中将现有的 TDP-43 聚集体重新配置成寡聚体状态。这种转化有效地恢复了 ALS 和早衰型早老症细胞模型中错误折叠 TDP-43 蛋白的生物活性。令人印象深刻的是,在早老症细胞中,缺陷的 lamin A 干扰 TDP-43 介导的外显子跳跃,促进病理性 TDP-43 聚集体的形成。然而,黄芩素恢复了 TDP-43 的功能,并减轻了这些 laminopathy 细胞中的核形状缺陷。这在 lamin A 和 TDP-43 与衰老的背景下建立了联系。我们的研究结果表明,针对生理 TDP-43 寡聚体可能为治疗与衰老相关的疾病提供一个有前途的治疗途径。