PUBLICATION

Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3

Authors
Robinson, K.J., Tym, M.C., Hogan, A., Watchon, M., Yuan, K.C., Plenderleith, S.K., Don, E.K., Laird, A.S.
ID
ZDB-PUB-210903-6
Date
2021
Source
Disease models & mechanisms   14(10): (Journal)
Registered Authors
Don, Emily, Laird, Angela, Watchon, Maxinne
Keywords
Flow cytometry, Hereditary spinocerebellar ataxias, Insoluble protein species, Machado Joseph disease, Neurodegenerative disease, Protein aggregates, Proteinopathy, Spinocerebellar ataxia-3
MeSH Terms
  • Animals
  • Animals, Genetically Modified
  • Ataxin-3/metabolism
  • Autophagy/drug effects
  • Cell Line, Tumor
  • Cell Nucleus/metabolism
  • Disease Models, Animal
  • Flow Cytometry*
  • Green Fluorescent Proteins/metabolism
  • Humans
  • Machado-Joseph Disease/pathology*
  • Neurons/metabolism
  • Peptides
  • Protein Aggregates*
  • Solubility
  • Zebrafish/physiology*
PubMed
34473252 Full text @ Dis. Model. Mech.
Abstract
Spinocerebellar ataxia-3 (SCA3, also Machado Joseph disease), is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 protein. In this study we have identified protein aggregates in both neuronal-like (SHSY5Y) cells and transgenic zebrafish expressing human ataxin-3 with expanded polyQ. We have adapted a previously reported flow cytometry methodology named flow cytometric analysis of inclusions and trafficking (FloIT), allowing rapid quantification of detergent insoluble forms of ataxin-3 fused to a green fluorescent protein in the SHSY5Y cells and cells dissociated from the zebrafish larvae. Flow cytometric analysis revealed an increased number of detergent-insoluble ataxin-3 particles per nuclei in the cells and zebrafish expressing polyQ expanded ataxin-3 compared to those expressing wildtype human ataxin-3. Treatment with compounds known to modulate autophagy activity was found to alter the number of detergent-insoluble ataxin-3 particles in cells and zebrafish. We conclude that flow cytometry can be harnessed to rapidly count ataxin-3 aggregates, both in vitro and in vivo, and can be utilised to compare potential therapies targeting protein aggregates.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping