Long Jiahui, Luo Xia, Fang Dongmei, Song Haikun, Fang Weibin, Shan Hao, Liu Peiqing, Lu Boxun, Yin Xiao-Ming, Hong Liang, Li Min
School of Pharmaceutical Sciences, Guangdong Provincial Key Laboratory of Chiral Molecule and Drug Discovery, National and Local Joint Engineering Laboratory of Druggability and New Drugs Evaluation, Guangdong Engineering Laboratory of Druggability and New Drugs Evaluation, Sun Yat-Sen University, Guangzhou, 510006, Guangdong, China.
Greater Bay Area Institute of Precision Medicine (Guangzhou), Fudan University, Guangzhou, 511458, Guangdong, China.
Cell Biosci. 2022 Oct 8;12(1):167. doi: 10.1186/s13578-022-00906-3.
Huntington's disease (HD) is a neurodegenerative disorder caused by aggregation of the mutant huntingtin (mHTT) protein encoded from extra tracts of CAG repeats in exon 1 of the HTT gene. mHTT proteins are neurotoxic to render the death of neurons and a series of disease-associated phenotypes. The mHTT is degraded through autophagy pathway and ubiquitin-proteasome system (UPS). This study identified a small molecule, J3, as an autophagy inducer by high-content screening. The results revealed that J3 could inhibit mTOR, thus promoting autophagic flux and long-lived protein degradation. Further, J3 selectively lowered the soluble and insoluble mHTT but not wild type HTT levels in cell models. The HdhQ140 mice showed reduced HD-associated activity and loss of motor functions. However, administration of J3 showed increased activity and a slight improvement in the motor function in the open-field test, balance beam test, and rotarod tests. Furthermore, in vivo studies revealed that J3 decreased T-HTT and misfolded protein levels in the striatum and increased the levels of the medium spiny neuron marker DARPP-32. In addition, J3 showed good permeability across the brain-blood barrier efficiently, suggesting that J3 was a promising candidate for the treatment of HD.
亨廷顿舞蹈症(HD)是一种神经退行性疾病,由HTT基因第1外显子中CAG重复序列额外片段编码的突变型亨廷顿蛋白(mHTT)聚集所致。mHTT蛋白具有神经毒性,可导致神经元死亡及一系列与疾病相关的表型。mHTT通过自噬途径和泛素-蛋白酶体系统(UPS)降解。本研究通过高内涵筛选鉴定出一种小分子J3作为自噬诱导剂。结果显示,J3可抑制mTOR,从而促进自噬通量和长寿命蛋白降解。此外,J3在细胞模型中选择性降低了可溶性和不可溶性mHTT水平,但不影响野生型HTT水平。HdhQ140小鼠表现出与HD相关的活动减少和运动功能丧失。然而,在旷场试验、平衡木试验和转棒试验中,给予J3后活动增加,运动功能略有改善。此外,体内研究表明,J3降低了纹状体中T-HTT和错误折叠蛋白的水平,并增加了中等棘状神经元标志物DARPP-32的水平。此外,J3在脑血屏障上具有良好的通透性,表明J3是治疗HD的一个有前景的候选药物。