Fischbeck K H
Department of Neurology, University of Pennsylvania Medical School, Philadelphia 19104, USA.
J Inherit Metab Dis. 1997 Jun;20(2):152-8. doi: 10.1023/a:1005344403603.
Kennedy disease is a disorder with progressive motor neuron degeneration that is caused by trinucleotide repeat expansion in the androgen receptor gene. The disease mechanism likely involves toxicity of an expanded polyglutamine tract in the androgen receptor protein. This mechanism is probably shared by other neurodegenerative disorders with polyglutamine expansion, including Huntington disease. Attempts at reproducing the Kennedy disease phenotype by introducing the expanded androgen receptor into cultured neuronal cells and transgenic animals have thus far been unsuccessful, but recently developed model systems with other expanded polyglutamine constructs should allow the pathogenesis of these diseases to be elucidated.
肯尼迪病是一种进行性运动神经元变性疾病，由雄激素受体基因中的三核苷酸重复扩增引起。该疾病机制可能涉及雄激素受体蛋白中扩展的聚谷氨酰胺序列的毒性。其他伴有聚谷氨酰胺扩增的神经退行性疾病，包括亨廷顿病，可能也存在相同的机制。迄今为止，通过将扩展的雄激素受体导入培养的神经元细胞和转基因动物来重现肯尼迪病表型的尝试均未成功，但最近利用其他扩展聚谷氨酰胺构建体开发的模型系统应有助于阐明这些疾病的发病机制。
