Department of Psychological Medicine, MRC centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Wales, UK.
Brain Res Bull. 2012 Jun 1;88(2-3):276-84. doi: 10.1016/j.brainresbull.2011.07.021. Epub 2011 Aug 10.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease, resulting in expansion of the CAG repeat in exon 1 of the HTT gene. The resulting mutant huntingtin protein has been implicated in the disruption of a variety of cellular functions, including transcription. Mouse models of HD have been central to the development of our understanding of gene expression changes in this disease, and are now beginning to elucidate the relationship between gene expression and behaviour. Here, we review current mouse models of HD and their characterisation in terms of gene expression. In addition, we look at how this can inform behaviours observed in mouse models of disease. The relationship between gene expression and behaviour in mouse models of HD is important, as this will further our knowledge of disease progression and its underlying molecular events, highlight new treatment targets, and potentially provide new biomarkers for therapeutic trials.
亨廷顿病（HD）是一种常染色体显性神经退行性疾病，导致 HTT 基因外显子 1 中的 CAG 重复扩展。由此产生的突变亨廷顿蛋白与多种细胞功能的破坏有关，包括转录。HD 的小鼠模型是我们理解该疾病基因表达变化的核心，现在开始阐明基因表达与行为之间的关系。在这里，我们回顾了目前的 HD 小鼠模型及其在基因表达方面的特征。此外，我们还研究了这如何影响疾病小鼠模型中观察到的行为。HD 小鼠模型中基因表达与行为之间的关系很重要，因为这将进一步加深我们对疾病进展及其潜在分子事件的了解，突出新的治疗靶点，并为治疗试验提供潜在的新生物标志物。
