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Sirtuins 作为亨廷顿病 (HD) 病理学的调节剂。

Sirtuins as Modifiers of Huntington's Disease (HD) Pathology.

机构信息

Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

Yong Loo Lin School of Medicine, National University of Singapore, Singapore; NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore.

出版信息

Prog Mol Biol Transl Sci. 2018;154:105-145. doi: 10.1016/bs.pmbts.2017.11.013. Epub 2017 Dec 27.

DOI:10.1016/bs.pmbts.2017.11.013
PMID:29413175
Abstract

Sirtuins and their pharmacological activators/inhibitors have been associated with a range of neuroprotective effects or disease modifying influences in neurological disorders. Huntington's disease (HD) is an autosomal-dominant, progressive neurodegenerative disease characterized by movement disorder, psychiatric symptoms and cognitive decline. The monogenic mutation in HD encodes a variant of the protein Huntingtin (HTT). The disease is a consequence of a CAG repeat extension leading to an abnormally long polyglutamine (Q) stretch at HTT's N-terminus, which likely confers a toxic gain of function to the mutant polypeptide. HD has currently no effective disease-modifying therapy or preventive measures. In the past 2decades, a sizable body of work on Sirtuins' modification of HD pathology using HD cell and animal models has accumulated. In this chapter, evidence for Sirtuin activities as potential modifiers of HD pathology is reviewed. The conflicting findings of the impacts of mammalian Sirtuin paralogs on HD pathogenesis and disease progression are highlighted. The possible cellular and molecular mechanisms underlying Sirtuin activities in HD are discussed with reference to pathophysiological mechanisms of transcription perturbation, proteostasis, mitochondrial function, and microtubule dynamics. A brief therapeutic perspective on the use of Sirtuin activators and inhibitors is also presented.

摘要

Sirtuins 及其药理学激活剂/抑制剂与一系列神经保护作用或疾病修饰影响有关,这些作用或影响存在于神经紊乱中。亨廷顿病 (HD) 是一种常染色体显性遗传、进行性神经退行性疾病,其特征是运动障碍、精神症状和认知能力下降。HD 的单基因突变编码 Huntingtin (HTT) 蛋白的变体。该疾病是由于 CAG 重复延伸导致 HTT 的 N 端异常长的多聚谷氨酰胺 (Q) 延伸,这可能赋予突变多肽毒性获得功能。目前,HD 没有有效的疾病修饰治疗或预防措施。在过去的 20 年中,使用 HD 细胞和动物模型对 Sirtuins 修饰 HD 病理学的大量工作已经积累起来。在这一章中,审查了 Sirtuin 活性作为 HD 病理学潜在修饰物的证据。强调了哺乳动物 Sirtuin 同源物对 HD 发病机制和疾病进展的影响的矛盾发现。讨论了 Sirtuin 活性在 HD 中的可能细胞和分子机制,并参考了转录扰动、蛋白质稳态、线粒体功能和微管动力学的病理生理机制。还简要介绍了 Sirtuin 激活剂和抑制剂的治疗前景。

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