A Filter Retardation Assay Facilitates the Detection and Quantification of Heat-Stable, Amyloidogenic Mutant Huntingtin Aggregates in Complex Biosamples

Methods Mol Biol. 2018:1780:31-40. doi: 10.1007/978-1-4939-7825-0_3.

Abstract

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.

Keywords: Amyloidogenesis; Coaggregation; Filter retardation assay; Insoluble aggregates; Protein aggregation; Protein misfolding; Seeding and spreading of protein aggregates.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Brain / pathology*
  • Disease Models, Animal
  • Drosophila melanogaster
  • Hot Temperature
  • Humans
  • Huntingtin Protein / analysis*
  • Huntingtin Protein / genetics
  • Huntingtin Protein / metabolism
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • Huntington Disease / pathology
  • Immunoblotting / instrumentation
  • Immunoblotting / methods*
  • Mice
  • Mutation
  • Protein Aggregates
  • Protein Aggregation, Pathological / diagnosis*
  • Protein Aggregation, Pathological / genetics
  • Protein Aggregation, Pathological / pathology

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Protein Aggregates