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Related Experiment Video

Updated: Oct 21, 2025

Growth Assays to Assess Polyglutamine Toxicity in Yeast
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Polyglutamine diseases.

Emma L Bunting1, Joseph Hamilton1, Sarah J Tabrizi2

  • 1UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Current Opinion in Neurobiology
|September 6, 2021
PubMed
Summary

Polyglutamine diseases involve CAG trinucleotide expansions affecting neurological function. Research reveals DNA repair, splicing, and autophagy pathways are key in disease and potential therapeutic targets like antisense oligonucleotides.

Keywords:
CAG repeatHuntington’s diseasePolyglutamineRepeat expansionSpinal and bulbar muscular atrophySpinocerebellar ataxias

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Polyglutamine diseases are a group of nine disorders caused by CAG trinucleotide expansions.
  • These disorders present with diverse neurological and clinical symptoms.
  • Recent research implicates genetic and molecular mechanisms in disease progression.

Purpose of the Study:

  • To review recent advances in understanding the pathogenesis of polyglutamine diseases.
  • To identify common and distinct molecular mechanisms across different polyglutamine diseases.
  • To highlight potential therapeutic strategies.

Main Methods:

  • Review of human, mouse, and cell studies on Huntington's disease, spinocerebellar ataxias, and spinal and bulbar muscular atrophy.
  • Analysis of genetic, molecular, and cellular pathways involved in disease.
  • Evaluation of preclinical therapeutic approaches.

Main Results:

  • DNA repair gene involvement in somatic CAG expansion in Huntington's disease.
  • HTT gene alternative splicing and exon 1 fragment contribute to Huntington's disease.
  • Transcriptional dysregulation of ion channels modifies spinocerebellar ataxias.
  • Post-transcriptional/translational modifications and autophagy impact toxic protein levels in spinocerebellar ataxias.
  • Autophagy stimulation is a potential therapeutic target for spinal and bulbar muscular atrophy.
  • Antisense oligonucleotides show preclinical benefits for polyglutamine diseases.

Conclusions:

  • Polyglutamine diseases share common pathogenic pathways, including DNA repair, splicing, and protein processing.
  • Autophagy modulation and antisense oligonucleotide therapy represent promising therapeutic avenues.
  • Further research into these molecular mechanisms can guide future treatment strategies.