The impact of genetic research on our understanding of Parkinson's disease.
The impact of genetic research on our understanding of Parkinson's disease.
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DOI：
10.1016/s0079-6123(10)83002-x
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发表时间：
2010
影响因子：
--
通讯作者：
Dawson, Ted M.
中科院分区：
文献类型：
--
作者：
Martin, Ian;Dawson, Valina L.;Dawson, Ted M.
关键词：
直到最近，遗传学被认为在帕金森氏病(PD)的发展中扮演着次要的角色。在过去的十年里，一些明确导致帕金森病的基因已经被发现，这导致了基于致病基因变体的疾病模型的产生，这些基因变体概括了疾病的许多特征。这些遗传学研究为帕金森病的潜在发病机制提供了新的见解。本章将提供与帕金森病有决定性关联的基因的概况，并概述遗传学研究所涉及的帕金森病发病机制。线粒体功能障碍、氧化应激和泛素-蛋白酶体系统功能受损是遗传学研究特别支持的疾病机制，因此是本章的重点。
Until recently, genetics was thought to play a minor role in the development of Parkinson’s disease (PD). Over the last decade, a number of genes that definitively cause PD have been identified, which has led to the generation of disease models based on pathogenic gene variants that recapitulate many features of the disease. These genetic studies have provided novel insight into potential mechanisms underlying the etiology of PD. This chapter will provide a profile of the genes conclusively linked to PD and will outline the mechanisms of PD pathogenesis implicated by genetic studies. Mitochondrial dysfunction, oxidative stress and impaired ubiquitin-proteasome system function are disease mechanisms that are particularly well supported by genetic studies and are therefore the focus of this chapter.