DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE

亨廷顿病（HD）是一种常染色体显性遗传病 进行性神经退行性疾病，通常在 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 多态性CAG重复导致大于正常长度的 HD基因产物N-末端的多聚谷氨酰胺 （亨廷顿蛋白），其功能未知。劳顾会 成功地为HD创建了小鼠模型， 行为异常和神经病理学特征 疾病中固有的。我们目前正在利用这些 阐明疾病过程中早期事件的模型， 确定疾病中的修饰因素，并筛选 治疗化合物。

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.