Ast Anne, Schindler Franziska, Buntru Alexander, Schnoegl Sigrid, Wanker Erich E
Neuroproteomics, Max Delbrueck Center for Molecular Medicine, Berlin, Germany.
Methods Mol Biol. 2018;1780:31-40. doi: 10.1007/978-1-4939-7825-0_3.
N-terminal mutant huntingtin (mHTT) fragments with pathogenic polyglutamine (polyQ) tracts spontaneously form stable, amyloidogenic protein aggregates with a fibrillar morphology. Such structures are detectable in brains of Huntington's disease (HD) patients and various model organisms, suggesting that they play a critical role in pathogenesis. Heat-stable, fibrillar mHTT aggregates can be detected and quantified in cells and tissues using a denaturing filter retardation assay (FRA). Here, we describe step-by-step protocols and experimental procedures for the investigation of mHTT aggregates in complex biosamples using FRAs. The methods are illustrated with examples from studies in cellular, transgenic fly, and mouse models of HD, but can be adapted for any disease-relevant protein with amyloidogenic polyQ tracts.
具有致病性多聚谷氨酰胺(polyQ)序列的N端突变型亨廷顿蛋白(mHTT)片段会自发形成稳定的、具有淀粉样蛋白原性的蛋白聚集体,其形态为纤维状。此类结构在亨廷顿舞蹈病(HD)患者的大脑以及各种模式生物中均可检测到,这表明它们在发病机制中起着关键作用。利用变性滤膜阻滞分析(FRA),可在细胞和组织中检测并定量热稳定的纤维状mHTT聚集体。在此,我们描述了使用FRA研究复杂生物样品中mHTT聚集体的逐步方案和实验步骤。文中通过HD细胞模型、转基因果蝇模型和小鼠模型研究中的实例对这些方法进行了说明,但这些方法可适用于任何具有淀粉样蛋白原性polyQ序列的与疾病相关的蛋白质。