Deregulation of RNA metabolism in microsatellite expansion diseases

Chaitali Misra, Feikai Lin, Auinash Kalsotra

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.

Original languageEnglish (US)
Title of host publicationAdvances in Neurobiology
PublisherSpringer New York LLC
Pages213-238
Number of pages26
DOIs
StatePublished - 2018

Publication series

NameAdvances in Neurobiology
Volume20
ISSN (Print)2190-5215

Keywords

  • Alternative splicing and polyadenylation
  • Microsatellite repeat expansions
  • Post-transcriptional gene regulation
  • RNA toxicity
  • RNA-binding proteins

ASJC Scopus subject areas

  • Biochemistry
  • Neurology
  • Developmental Neuroscience
  • Cellular and Molecular Neuroscience

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  • Cite this

    Misra, C., Lin, F., & Kalsotra, A. (2018). Deregulation of RNA metabolism in microsatellite expansion diseases. In Advances in Neurobiology (pp. 213-238). (Advances in Neurobiology; Vol. 20). Springer New York LLC. https://doi.org/10.1007/978-3-319-89689-2_8