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旨在全面理解线粒体功能障碍和氧化应激在亨廷顿病发病机制和病理生理学中的作用。

Towards a comprehensive understanding of the contributions of mitochondrial dysfunction and oxidative stress in the pathogenesis and pathophysiology of Huntington's disease.

机构信息

Johns Hopkins University, Baltimore, Maryland.

出版信息

J Neurosci Res. 2019 Nov;97(11):1455-1468. doi: 10.1002/jnr.24492. Epub 2019 Jul 15.

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

亨廷顿病(HD)是一种罕见的常染色体显性遗传病,影响大脑的皮质纹状体区域。HD 是由 4p16.3 染色体短臂上的亨廷顿基因(HTT)中的延长的胞嘧啶-腺嘌呤-鸟嘌呤(CAG)重复(36 个重复或更多)驱动的,该基因编码亨廷顿蛋白(HTT)。尽管 HTT 内的多聚谷氨酰胺扩展是 HD 发病机制中的致病因素,但引发这种扩展以及由此导致的神经退行性变和临床症状的潜在机制尚不完全清楚。本文阐述了线粒体功能障碍和氧化应激在 HTT 扩展、HD 进展和临床症状中的关键作用。讨论了它们与疾病关键因素的相互作用以及治疗策略。

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