DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE

亨廷顿病是一种常染色体显性遗传病 进行性神经退行性疾病，一般起病于 中年。HD的特征是舞蹈症、痴呆症和 神经精神问题。突变在于一个 CAG重复序列的多态导致的长度大于正常长度 HD基因产物N-末端的多聚谷氨酰胺 (亨廷顿)，其功能未知。实验室一直在 成功地创建了HD鼠标模型，概括了一些 行为异常特征与神经病理特征 这种疾病与生俱来的。我们目前正在利用这些优势 阐明疾病过程中的早期事件的模型，以 确定疾病中的修饰因素，并筛查 治疗性化合物。

Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder with onset generally in midlife. HD is characterized by chorea, dementia, and neuropsychiatric problems. The mutation lies in the expansion of a polymorphic CAG repeat resulting in greater than normal length of polyglutamines in the N-terminal end of the HD gene product (huntingtin) which is of unknown function. The lab has been successful in creating mouse models for HD that recapitulates some features of behavioral abnromalities and neuropathological features inherent in the disease. We are currently taking advantage of these models to elucidate the early events in the disease process, to identify modifying factors in the disease, and to screen for therapeutic compounds.