DEVELOPMENT OF CELLULAR AND ANIMAL MODELS FOR HUNTINGTONS DISEASE

亨廷顿病细胞和动物模型的开发

• 批准号: 6109006
• 负责人: D A TAGLE
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6109006
• 关键词: Huntington's disease; artificial chromosomes; disease /disorder model; genetically modified animals; glutaminase; laboratory mouse; model design /development; molecular cloning; molecular pathology; nucleic acid repetitive sequence; protein glutamine gamma glutamyltransferase; protein structure; protein structure function; transfection

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.

亨廷顿舞蹈病（HD）是常染色体显性遗传病