Expanded complexity of unstable repeat diseases

Urszula Polak, Elizabeth Mcivor, Sharon Y.R. Dent, Robert D. Wells, Marek Napierala

Research output: Contribution to journalReview articlepeer-review

15 Scopus citations


Unstable repeat diseases (URDs) share a common mutational phenomenon of changes in the copy number of short, tandemly repeated DNA sequences. More than 20 human neurological diseases are caused by instability, predominantly, expansion of microsatellite sequences. Changes in the repeat size initiate a cascade of pathological processes, frequently characteristic of a unique disease or a small subgroup of the URDs. Understanding of both the mechanism of repeat instability and molecular consequences of the repeat expansions is critical to developing successful therapies for these diseases. Recent technological breakthroughs in whole genome, transcriptome and proteome analyses will almost certainly lead to new discoveries regarding the mechanisms of repeat instability, the pathogenesis of URDs, and will facilitate development of novel therapeutic approaches. The aim of this review is to give a general overview of unstable repeats diseases, highlight the complexities of these diseases, and feature the emerging discoveries in the field. © 2012 BioFactors, 2013

Original languageEnglish (US)
Pages (from-to)164-175
Number of pages12
Issue number2
StatePublished - Mar 2013
Externally publishedYes


  • Induced pluripotent stem cells
  • Repeat expansions and contractions
  • Repeat instability
  • Unstable repeat diseases

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Clinical Biochemistry


Dive into the research topics of 'Expanded complexity of unstable repeat diseases'. Together they form a unique fingerprint.

Cite this