Hannan Anthony J
Howard Florey Institute, University of Melbourne, Parkville, Victoria 3010, Australia.
IDrugs. 2004 Apr;7(4):351-8.
Huntington's disease (HD) is a fatal, genetically based brain disorder in which there is progressive neurodegeneration leading to motor, cognitive and psychiatric symptoms. The trinucleotide repeat mutation involved is common to many other brain diseases, and may therefore involve similar mechanisms of pathogenesis. We are beginning to understand how a CAG repeat expansion, encoding an expanded polyglutamine tract, induces progressive deficits in intra- and inter-cellular signaling, and subsequent disease symptoms. This review focuses on our current knowledge of molecular mechanisms of pathogenesis in HD and the use of this information to identify potential therapeutic targets and screen drugs in various transgenic models.
亨廷顿舞蹈症（HD）是一种致命的、基于基因的脑部疾病，会出现进行性神经退行性变，导致运动、认知和精神症状。所涉及的三核苷酸重复突变在许多其他脑部疾病中也很常见，因此可能涉及相似的发病机制。我们开始了解编码扩展型聚谷氨酰胺序列的CAG重复序列扩展如何诱导细胞内和细胞间信号传导的进行性缺陷以及随后的疾病症状。本综述着重介绍我们目前对HD发病机制分子机制的认识，以及利用这些信息在各种转基因模型中识别潜在治疗靶点和筛选药物的情况。
