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Repeat expansion disease: progress and puzzles in disease pathogenesis

Albert R La Spada1, J Paul Taylor

  • 1Division of Genetics, Department of Pediatrics, Institute for Genomic Medicine, University of California-San Diego, La Jolla, California 92093, USA. alaspada@ucsd.edu

Nature Reviews. Genetics
|February 24, 2010
PubMed

Insights

Repeat expansion mutations cause inherited neurological diseases. Shared mechanisms like RNA toxicity and protein degradation via autophagy offer therapeutic targets for these untreatable disorders.

Area of Science:

  • Genetics
  • Neurobiology
  • Molecular Biology

Background:

  • Repeat expansion mutations are responsible for over 22 inherited neurological diseases.
  • These disorders share complex genetic and pathobiological features, including RNA toxicity.

Purpose of the Study:

  • To explore common mechanistic pathways in repeat expansion neurological diseases.
  • To identify potential therapeutic intervention points for currently untreatable neurodegenerative disorders.

Main Methods:

  • Review of genetic and pathobiological studies on repeat expansion diseases.
  • Analysis of molecular mechanisms including RNA toxicity, post-translational modification, and protein degradation pathways.

Main Results:

  • Identified RNA toxicity as a shared theme across repeat expansion neurological diseases.
  • Highlighted the role of post-translational modification and autophagy in polyglutamine disease pathogenesis.
  • These mechanisms are likely relevant to the broader field of neurodegeneration.

Conclusions:

  • Insights from repeat disease research are driving new studies into molecular mechanisms.
  • Research into these shared pathways may reveal therapeutic opportunities for neurodegenerative diseases.

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