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Deregulation of RNA Metabolism in Microsatellite Expansion Diseases

Chaitali Misra1, Feikai Lin1, Auinash Kalsotra2,3

  • 1Department of Biochemistry, University of Illinois, Urbana-Champaign, IL, USA.

Advances in Neurobiology
|June 20, 2018
PubMed

Insights

RNA metabolism defects cause diseases. This review details disrupted RNA metabolism in Myotonic Dystrophy, a trinucleotide repeat expansion disorder, focusing on RNA-binding proteins and comparing it to other microsatellite disorders.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • RNA metabolism is crucial for mRNA processing, including splicing, polyadenylation, export, translation, and decay.
  • Defects in RNA metabolic pathways are linked to severe human diseases.
  • Myotonic Dystrophy is a genetic disorder caused by trinucleotide repeat expansions.

Purpose of the Study:

  • To review RNA metabolic mechanisms disrupted in Myotonic Dystrophy.
  • To explore the role of dysregulated RNA-binding proteins in Myotonic Dystrophy.
  • To compare Myotonic Dystrophy with other microsatellite expansion disorders.

Main Methods:

  • Literature review of RNA metabolism and Myotonic Dystrophy.
  • Analysis of RNA-binding protein dysregulation in disease.
  • Comparative study of microsatellite expansion disorders.

Main Results:

  • Myotonic Dystrophy exhibits disrupted RNA metabolism due to altered RNA-binding proteins.
  • Shared RNA metabolic defects are observed across various microsatellite expansion disorders.
  • These disruptions contribute to disease pathology through direct and indirect mechanisms.

Conclusions:

  • Dysregulated RNA metabolism and RNA-binding proteins are central to Myotonic Dystrophy pathogenesis.
  • Understanding these mechanisms aids in comparing and potentially treating related genetic disorders.
  • Targeting RNA metabolic pathways may offer therapeutic strategies for trinucleotide repeat expansion diseases.
Keywords:
Alternative splicing and polyadenylationMicrosatellite repeat expansionsPost-transcriptional gene regulationRNA toxicityRNA-binding proteins

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