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Abstract：
Huntington\'s disease (HD) is a rare autosomal dominant disorder affecting the corticostriatal area of the brain. HD is driven by elongated cytosine-adenine-guanine (CAG) repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtin gene (HTTg) which encode the huntingtin protein (HTT). Although the polyglutamine expansion within HTT is the causative factor in the pathogenesis of HD, the underlying mechanisms that provoke this expansion and the resulting neurodegeneration and clinical symptoms are not fully understood. In this paper, the critical role played by mitochondria dysfunction and oxidative stress in HTT expansion, HD progression, and clinical symptoms are elucidated. Their interactions with the key factors in the disease, as well as treatment strategies, are discussed.
摘要：
亨廷顿氏病（HD）是一种罕见的常染色体显性疾病，影响大脑的皮质纹状体区域。HD由编码亨廷顿蛋白（HTT）的亨廷顿基因（HTTg）中染色体4p16.3的短臂上的延长的胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复（36个重复或更多）驱动。尽管HTT内聚谷氨酰胺的扩增是HD发病的致病因素,引起这种扩张的潜在机制以及由此产生的神经变性和临床症状尚不完全清楚.在本文中,线粒体功能障碍和氧化应激在HTT扩增中的关键作用，HD进展,并阐明了临床症状。它们与疾病中的关键因素的相互作用，以及治疗策略，正在讨论。
