Wong Hon Kit, Bauer Peter O, Kurosawa Masaru, Goswami Anand, Washizu Chika, Machida Yoko, Tosaki Asako, Yamada Mizuki, Knöpfel Thomas, Nakamura Takemichi, Nukina Nobuyuki
Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama 351-0198, Japan.
Hum Mol Genet. 2008 Oct 15;17(20):3223-35. doi: 10.1093/hmg/ddn218. Epub 2008 Jul 24.
Huntington's disease (HD) is a fatal neurodegenerative disorder. Despite a tremendous effort to develop therapeutic tools in several HD models, there is no effective cure at present. Acidosis has been observed previously in cellular and in in vivo models as well as in the brains of HD patients. Here we challenged HD models with amiloride (Ami) derivative benzamil (Ben), a chemical agent used to rescue acid-sensing ion channel (ASIC)-dependent acidotoxicity, to examine whether chronic acidosis is an important part of the HD pathomechanism and whether these drugs could be used as novel therapeutic agents. Ben markedly reduced the huntingtin-polyglutamine (htt-polyQ) aggregation in an inducible cellular system, and the therapeutic value of Ben was successfully recapitulated in the R6/2 animal model of HD. To reveal the mechanism of action, Ben was found to be able to alleviate the inhibition of the ubiquitin-proteasome system (UPS) activity, resulting in enhanced degradation of soluble htt-polyQ specifically in its pathological range. More importantly, we were able to demonstrate that blocking the expression of a specific isoform of ASIC (asic1a), one of the many molecular targets of Ben, led to an enhancement of UPS activity and this blockade also decreased htt-polyQ aggregation in the striatum of R6/2 mice. In conclusion, we believe that chemical compounds that target ASIC1a or pharmacological alleviation of UPS inhibition would be an effective and promising approach to combat HD and other polyQ-related disorders.
亨廷顿舞蹈症(HD)是一种致命的神经退行性疾病。尽管在多种HD模型中为开发治疗工具付出了巨大努力,但目前仍没有有效的治愈方法。先前在细胞和体内模型以及HD患者的大脑中均观察到酸中毒现象。在此,我们用氨氯吡脒(Ami)衍生物苄甲氯铵(Ben)对HD模型进行了挑战,苄甲氯铵是一种用于挽救酸敏感离子通道(ASIC)依赖性酸毒性的化学试剂,以研究慢性酸中毒是否是HD发病机制的重要组成部分,以及这些药物是否可用作新型治疗剂。在诱导性细胞系统中,Ben显著降低了亨廷顿蛋白-聚谷氨酰胺(htt-polyQ)的聚集,并且在HD的R6/2动物模型中成功再现了Ben的治疗价值。为了揭示其作用机制,发现Ben能够减轻对泛素-蛋白酶体系统(UPS)活性的抑制,从而导致可溶性htt-polyQ在其病理范围内的降解增强。更重要的是,我们能够证明阻断ASIC的一种特定亚型(asic1a)的表达,Ben的众多分子靶点之一,会导致UPS活性增强,并且这种阻断也减少了R6/2小鼠纹状体中htt-polyQ的聚集。总之,我们认为靶向ASIC1a的化合物或对UPS抑制的药理学缓解将是对抗HD和其他多聚谷氨酰胺相关疾病的有效且有前景的方法。