Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai 200438, China.
Greater Bay Area Institute of Precision Medicine (Guangzhou), Fudan University, Guangzhou, Guangdong 511458, China.
Proc Natl Acad Sci U S A. 2022 Mar 8;119(10):e2114303119. doi: 10.1073/pnas.2114303119. Epub 2022 Mar 1.
Identifying inhibitors of pathogenic proteins is the major strategy of targeted drug discoveries. This strategy meets challenges in targeting neurodegenerative disorders such as Huntington’s disease (HD), which is mainly caused by the mutant huntingtin protein (mHTT), an “undruggable” pathogenic protein with unknown functions. We hypothesized that some of the chemical binders of mHTT may change its conformation and/or stability to suppress its downstream toxicity, functioning similarly to an “inhibitor” under a broader definition. We identified 21 potential mHTT selective binders through a small-molecule microarray–based screening. We further tested these compounds using secondary phenotypic screens for their effects on mHTT-induced toxicity and revealed four potential mHTT-binding compounds that may rescue HD-relevant phenotypes. Among them, a Food and Drug Administration–approved drug, desonide, was capable of suppressing mHTT toxicity in HD cellular and animal models by destabilizing mHTT through enhancing its polyubiquitination at the K6 site. Our study reveals the therapeutic potential of desonide for HD treatment and provides the proof of principle for a drug discovery pipeline: target-binder screens followed by phenotypic validation and mechanistic studies.
鉴定致病蛋白的抑制剂是靶向药物发现的主要策略。这种策略在针对神经退行性疾病(如亨廷顿病(HD))时遇到了挑战,HD 主要是由突变的亨廷顿蛋白(mHTT)引起的,mHTT 是一种“不可成药”的致病蛋白,其功能未知。我们假设,mHTT 的一些化学结合物可能会改变其构象和/或稳定性,从而抑制其下游毒性,在更广泛的定义下,其作用类似于“抑制剂”。我们通过基于小分子微阵列的筛选,确定了 21 种潜在的 mHTT 选择性结合物。我们进一步使用二级表型筛选来测试这些化合物对 mHTT 诱导的毒性的影响,揭示了四种可能与 mHTT 结合的化合物,这些化合物可能挽救与 HD 相关的表型。其中,一种美国食品和药物管理局批准的药物地奈德,通过增强 mHTT 在 K6 位点的多泛素化来使其不稳定,从而能够抑制 HD 细胞和动物模型中的 mHTT 毒性。我们的研究揭示了地奈德治疗 HD 的治疗潜力,并为药物发现管道提供了原理验证:靶标结合物筛选,然后是表型验证和机制研究。