Deregulation of RNA Metabolism in Microsatellite Expansion Diseases

Adv Neurobiol. 2018;20:213-238. doi: 10.1007/978-3-319-89689-2_8.


RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy-a trinucleotide repeat expansion disease-due to dysregulation of RNA-Binding Proteins. We also compare Myotonic Dystrophy to other microsatellite expansion disorders and describe how some of these mechanisms commonly exert direct versus indirect effects toward disease pathologies.

Keywords: Alternative splicing and polyadenylation; Microsatellite repeat expansions; Post-transcriptional gene regulation; RNA toxicity; RNA-binding proteins.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Microsatellite Repeats*
  • Myotonic Dystrophy / metabolism*
  • RNA / metabolism*
  • RNA Splicing / physiology
  • Trinucleotide Repeat Expansion*


  • RNA