Gusella J F, MacDonald M E
Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown 02129, USA.
Curr Opin Neurobiol. 1995 Oct;5(5):656-62. doi: 10.1016/0959-4388(95)80072-7.
Huntington's disease, with its progressive uncontrolled movements and characteristic selective neuropathology, has represented a baffling enigma to geneticists and neurobiologists alike. Discovery of the HD gene and its defect has demystified the genetic aspects of the disorder, but has not yet explained its pathogenesis. Attempts to explore this issue suggest that the defect acts as a gain of function, conferring a new deleterious property on the huntingtin protein, and that the gene's normal function may be irrelevant to the disease process.
亨廷顿舞蹈症表现为进行性的不受控制的运动以及典型的选择性神经病理学特征，这对遗传学家和神经生物学家来说都是一个令人困惑的谜题。亨廷顿舞蹈症基因及其缺陷的发现揭开了该疾病遗传方面的神秘面纱，但尚未解释其发病机制。对这一问题的探索表明，该缺陷起到功能获得的作用，赋予亨廷顿蛋白一种新的有害特性，并且该基因的正常功能可能与疾病进程无关。
