Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Neuroscientist. 2011 Apr;17(2):153-62. doi: 10.1177/1073858410386236.
Huntingtin, the protein that when mutated causes Huntington disease (HD), has many known interactors and participates in diverse cellular functions. Mutant Htt (mHtt) engages in a variety of aberrant interactions that lead to pathological gain of toxic functions as well as loss of normal functions. The broad symptomatology of HD, including diminished voluntary motor control, cognitive decline, and psychiatric disturbances, reflects the multifaceted neuropathology. Although currently available therapies for HD focus on symptom management, the autosomal dominant cause and the adult onset make this disease an ideal candidate for genetic intervention. A variety of gene therapy approaches have been tested in mouse models of HD, ranging from those aimed at ameliorating downstream pathology or replacing lost neuronal populations to more upstream strategies to reduce mHtt levels. Here the authors review the results of these preclinical trials.
亨廷顿病(HD)是一种由突变蛋白亨廷顿(Huntingtin)引起的疾病,该蛋白有许多已知的相互作用物,并参与多种细胞功能。突变型 Htt(mHtt)会发生多种异常相互作用,导致毒性功能获得病理性改变,同时正常功能丧失。HD 的广泛症状,包括运动控制能力下降、认知能力下降和精神障碍,反映了多方面的神经病理学。尽管目前针对 HD 的治疗方法侧重于症状管理,但这种常染色体显性遗传疾病和成年发病使其成为基因干预的理想候选者。已经在 HD 的小鼠模型中测试了多种基因治疗方法,从旨在改善下游病理学或替代丢失的神经元群体的方法到减少 mHtt 水平的更上游策略。作者在这里综述了这些临床前试验的结果。