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Cell death in polyglutamine diseases.

B O Evert1, U Wüllner, T Klockgether

  • 1Department of Neurology, University of Bonn, Germany. b.evert@uni-bonn.de

Cell and Tissue Research
|August 6, 2000
PubMed
Summary
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Inherited neurodegenerative diseases like Huntington's disease are caused by expanded CAG trinucleotide repeats, leading to polyglutamine diseases. These disorders share common mechanisms, including protein inclusions and caspase activation, potentially inducing cell death.

Area of Science:

  • Neurogenetics
  • Molecular Neurology
  • Cellular Biology

Background:

  • Inherited neurodegenerative diseases are increasingly linked to trinucleotide repeat expansions.
  • At least nine disorders, including Huntington's disease, are caused by CAG repeat expansions forming polyglutamine stretches.

Purpose of the Study:

  • To review the clinical and genetic features of CAG repeat disorders.
  • To focus on common mechanistic steps in the progression of polyglutamine diseases.

Main Methods:

  • Literature review of clinical and genetic data.
  • Analysis of molecular mechanisms implicated in disease progression.

Main Results:

  • CAG repeat expansions lead to polyglutamine tracts in proteins, causing disorders like HD, DRPLA, SBMA, and SCAs.

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  • Common molecular features include intranuclear inclusions, protein-protein interactions, proteasome and chaperone involvement, and caspase activation.

    • Conclusions:

    • Polyglutamine diseases share common molecular pathways.
    • These pathways, particularly caspase activation, are implicated in inducing cell death in these neurodegenerative conditions.