Gusella J F, MacDonald M E
Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown 02129, USA.
Semin Cell Biol. 1995 Feb;6(1):21-8. doi: 10.1016/1043-4682(95)90011-x.
Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife onset. The biochemical basis for the specific neuronal loss of HD remains uncertain, but the genetic lesion probably acts via its consequent polyglutamine segment in the protein product, huntingtin. This review will describe the basic parameters of the HD repeat's behavior and the knowledge that has accumulated concerning its potential mechanisms of action.
1993年初，在亨廷顿舞蹈病（HD）染色体上发现了一个功能未知的新基因中存在不稳定的、扩展的三核苷酸重复序列。这一发现引发了一系列实验，这些实验已证实扩展的CAG重复序列几乎是这种中年发病的神经退行性疾病特征性神经症状和病理改变的普遍病因。HD中特定神经元丢失的生化基础仍不确定，但这种基因损伤可能通过其在蛋白质产物亨廷素中产生的多聚谷氨酰胺片段起作用。本综述将描述HD重复序列的基本行为参数以及积累的有关其潜在作用机制的知识。
