MacDonald M E, Gusella J F
Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown 02129, USA.
Curr Opin Neurobiol. 1996 Oct;6(5):638-43. doi: 10.1016/s0959-4388(96)80097-3.
The specific pattern of neuronal cell death in Huntington's disease (HD) is triggered by an abnormal version of the huntingtin protein, which is produced by translation of the HD gene defect, an expanded CAG repeat in a novel 4p16.3 gene. The extended amino-terminal polyglutamine segment may act via the protein's inherent activity, increasing it or decreasing it in a graded fashion, or, alternatively, it may confer the ability to interact with a completely different set of cellular pathways, focusing attention on the HD protein's normal and abnormal physiological functions.
亨廷顿舞蹈症（HD）中神经元细胞死亡的特定模式是由亨廷顿蛋白的异常版本引发的，该蛋白由HD基因缺陷翻译产生，HD基因缺陷是位于新的4p16.3基因中的CAG重复序列扩展。延伸的氨基末端多聚谷氨酰胺片段可能通过蛋白质的固有活性起作用，以分级方式增加或降低其活性，或者，它可能赋予与完全不同的一组细胞途径相互作用的能力，从而将注意力集中在HD蛋白的正常和异常生理功能上。
