CHDI Management Inc./CHDI Foundation Inc., 6080 Center Drive, Suite 100, Los Angeles, California 90046, USA.
J Clin Invest. 2011 Feb;121(2):476-83. doi: 10.1172/JCI45364. Epub 2011 Feb 1.
Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that results from expansion of the polyglutamine repeat in the huntingtin (HTT) gene. There are currently no effective treatments for this devastating disease. Given its monogenic nature, disease modification therapies for HD should be theoretically feasible. Currently, pharmacological therapies aimed at disease modification by altering levels of HTT protein are in late-stage preclinical development. Here, we review current efforts to develop new treatments for HD based on our current understanding of HTT function and the main pathological mechanisms. We emphasize the need to enhance translational efforts and highlight the importance of aligning the clinical and basic research communities to validate existing hypotheses in clinical studies. Human and animal therapeutic trials are presented with an emphasis on cellular and molecular mechanisms relevant to disease progression.
亨廷顿病(HD)是一种显性遗传性神经退行性疾病,由亨廷顿(HTT)基因中谷氨酸盐重复扩展引起。目前尚无针对这种毁灭性疾病的有效治疗方法。鉴于其单基因性质,HD 的疾病修饰疗法在理论上应该是可行的。目前,通过改变 HTT 蛋白水平来靶向疾病修饰的药理学疗法正处于后期临床前开发阶段。在这里,我们根据我们目前对 HTT 功能和主要病理机制的理解,综述了基于当前对 HTT 功能和主要病理机制的理解,开发 HD 新疗法的最新进展。我们强调需要加强转化研究,并强调需要将临床和基础研究界统一起来,以在临床研究中验证现有假说的重要性。重点介绍了与疾病进展相关的细胞和分子机制的人类和动物治疗试验。