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Repeat expansion diseases: when a good RNA turns bad

Alexa M Dickson1, Carol J Wilusz

  • 1Department of Microbiology, Immunology & Pathology, Colorado State University, Fort Collins, CO 80523, USA.

Wiley Interdisciplinary Reviews. RNA
|September 30, 2011
PubMed

Insights

Dominantly inherited diseases linked to gene repeat expansions can cause harm via toxic RNA molecules. This review explores RNA toxicity factors and new therapeutic strategies for these genetic disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • RNA Biology

Background:

  • Dominantly inherited diseases are increasingly associated with expansions of short tandem repeats in specific genes.
  • Pathogenesis can result from altered protein function, haploinsufficiency, or toxic RNA species.
  • Toxic RNAs can disrupt cellular metabolism, contributing to disease development.

Purpose of the Study:

  • To review the criteria influencing the toxicity of expanded repeat RNAs.
  • To discuss emerging therapeutic approaches for diseases caused by toxic RNAs.
  • To provide an overview of the molecular mechanisms underlying RNA-mediated pathogenesis.

Main Methods:

  • Literature review of genetic studies on repeat expansion diseases.
  • Analysis of molecular mechanisms of RNA toxicity.
  • Survey of current and developing therapeutic strategies.

Main Results:

  • Identified key sequence and structural features of repeat expansions that dictate RNA toxicity.
  • Highlighted the diverse cellular pathways affected by toxic RNAs, including RNA metabolism and protein translation.
  • Cataloged a range of therapeutic interventions targeting RNA production, localization, or function.

Conclusions:

  • Expanded repeat RNAs represent a significant class of pathogenic molecules in genetic diseases.
  • Understanding RNA toxicity determinants is crucial for developing effective treatments.
  • Novel therapeutic strategies show promise for managing these complex genetic disorders.

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