Gutekunst C A, Norflus F, Hersch S M
Department of Neurology, Emory University School of Medicine, Atlanta GA 30322, USA.
Curr Opin Neurol. 2000 Aug;13(4):445-50. doi: 10.1097/00019052-200008000-00013.
Huntington's disease is a progressive and fatal neurological disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the gene coding for a protein of unknown function that has been named huntingtin. The exact cause of neuronal death in Huntington's disease is unknown; however, the leading hypothesis is that of excitotoxicity and apoptosis induced by a defect in energy metabolism that may be caused by oxidative stress. How mutant huntingtin might cause these processes is unknown. New animal and cell models provide insights into the mechanism of pathogenesis and the search for the development of effective therapies.
亨廷顿舞蹈症是一种进行性致命性神经疾病，由编码功能未知蛋白质（命名为亨廷顿蛋白）的基因外显子1中CAG三核苷酸重复序列的扩增引起。亨廷顿舞蹈症中神经元死亡的确切原因尚不清楚；然而，主要假说是由能量代谢缺陷诱导的兴奋性毒性和细胞凋亡，这可能是由氧化应激引起的。突变的亨廷顿蛋白如何引发这些过程尚不清楚。新的动物和细胞模型为发病机制以及有效疗法的研发探索提供了见解。
