Department of Veterinary Science and Neuroscience Graduate Program, University of Wyoming, Laramie, Wyoming 82070, USA.
J Biol Chem. 2011 May 20;286(20):18320-30. doi: 10.1074/jbc.M110.199448. Epub 2011 Mar 30.
Huntington disease (HD) is a progressive neurodegenerative disorder caused by expression of polyglutamine-expanded mutant huntingtin protein (mhtt). Most evidence indicates that soluble mhtt species, rather than insoluble aggregates, are the important mediators of HD pathogenesis. However, the differential roles of soluble monomeric and oligomeric mhtt species in HD and the mechanisms of oligomer formation are not yet understood. We have shown previously that copper interacts with and oxidizes the polyglutamine-containing N171 fragment of huntingtin. In this study we report that oxidation-dependent oligomers of huntingtin form spontaneously in cell and mouse HD models. Levels of these species are modulated by copper, hydrogen peroxide, and glutathione. Mutagenesis of all cysteine residues within N171 blocks the formation of these oligomers. In cells, levels of oligomerization-blocked mutant N171 were decreased compared with native N171. We further show that a subset of the oligomerization-blocked form of glutamine-expanded N171 huntingtin is rapidly depleted from the soluble pool compared with "native " mutant N171. Taken together, our data indicate that huntingtin is subject to specific oxidations that are involved in the formation of stable oligomers and that also delay removal from the soluble pool. These findings show that inhibiting formation of oxidation-dependent huntingtin oligomers, or promoting their dissolution, may have protective effects in HD by decreasing the burden of soluble mutant huntingtin.
亨廷顿病 (HD) 是一种由聚谷氨酰胺扩展突变亨廷顿蛋白 (mhtt) 表达引起的进行性神经退行性疾病。大多数证据表明,可溶性 mhtt 物种而不是不溶性聚集体是 HD 发病机制的重要介质。然而,可溶性单体和寡聚 mhtt 物种在 HD 中的差异作用以及寡聚体形成的机制尚不清楚。我们之前已经表明,铜与包含聚谷氨酰胺的 huntingtin 的 N171 片段相互作用并使其氧化。在这项研究中,我们报告说,氧化依赖性的 huntingtin 寡聚体在细胞和小鼠 HD 模型中自发形成。这些物种的水平受铜、过氧化氢和谷胱甘肽调节。N171 内所有半胱氨酸残基的突变阻止了这些寡聚体的形成。在细胞中,与天然 N171 相比,寡聚化阻断突变 N171 的水平降低。我们进一步表明,与“天然”突变 N171 相比,谷氨酸扩展的 N171 huntingtin 的寡聚化阻断形式的一部分迅速从可溶性池中耗尽。总之,我们的数据表明,亨廷顿蛋白易受特定氧化作用的影响,这些氧化作用参与稳定寡聚体的形成,并且还延迟从可溶性池中去除。这些发现表明,抑制氧化依赖性亨廷顿寡聚体的形成或促进其溶解可能通过减少可溶性突变亨廷顿蛋白的负担对 HD 具有保护作用。