Li Shi-Hua, Li Xiao-Jiang
Department of Human Genetics, Emory University, School of Medicine, Atlanta, GA 30322, USA.
Trends Genet. 2004 Mar;20(3):146-54. doi: 10.1016/j.tig.2004.01.008.
At least nine inherited neurodegenerative diseases share a polyglutamine expansion in their respective disease proteins. These diseases show distinct neuropathological changes, suggesting that protein environment and protein-protein interactions play an important role in the specific neuropathology. A gain of toxic function as a result of an expanded polyglutamine tract can cause the protein huntingtin to interact abnormally with a variety of proteins, resulting in the complex of neuropathological changes seen in Huntington's disease. Recent studies have identified several huntingtin-interacting proteins that might be associated with the normal function of huntingtin and/or involved in the pathology of Huntington's disease. In this article, we focus on the potential roles of huntingtin-protein interactions in the pathogenesis of Huntington's disease.
至少有九种遗传性神经退行性疾病在各自的疾病蛋白中存在多聚谷氨酰胺扩增。这些疾病表现出明显的神经病理学变化，表明蛋白质环境和蛋白质-蛋白质相互作用在特定的神经病理学中起重要作用。多聚谷氨酰胺序列扩增导致的毒性功能获得可使亨廷顿蛋白与多种蛋白质发生异常相互作用，从而导致在亨廷顿病中所见的复杂神经病理学变化。最近的研究已经鉴定出几种与亨廷顿蛋白相互作用的蛋白质，它们可能与亨廷顿蛋白的正常功能相关和/或参与亨廷顿病的病理过程。在本文中，我们重点关注亨廷顿蛋白-蛋白质相互作用在亨廷顿病发病机制中的潜在作用。
