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Transcriptome alterations in myotonic dystrophy frontal cortex.

Brittney A Otero1, Kiril Poukalov1, Ryan P Hildebrandt1

  • 1Department of Molecular Genetics & Microbiology, Center for NeuroGenetics, Genetics Institute, University of Florida, Gainesville, FL, USA.

Cell Reports
|January 20, 2021
PubMed
Summary
This summary is machine-generated.

Myotonic dystrophy (DM) causes central nervous system (CNS) problems due to expanded DNA repeats. This study found widespread RNA splicing errors in the DM brain, linking them to disease severity and suggesting new biomarkers.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Myotonic dystrophy (DM) is a multisystem disorder caused by expanded CTG/CCTG repeats.
  • Central nervous system (CNS) involvement in DM leads to severe symptoms like hypersomnolence and cognitive deficits.
  • Understanding the molecular basis of DM CNS pathology is crucial for developing effective treatments.

Purpose of the Study:

  • To investigate RNA sequencing transcriptomes in the frontal cortex of DM patients and unaffected individuals.
  • To identify and characterize splicing alterations specific to the DM brain.
  • To correlate splicing changes and gene expression patterns with CTG repeat length and disease severity.

Main Methods:

  • RNA-sequencing (RNA-seq) was performed on frontal cortex tissue from DM and control subjects.
  • High-confidence splicing changes were identified using computational analysis.
  • Optical mapping was employed to assess the length and mosaicism of expanded CTG repeats.
  • Gene expression levels were quantified and correlated with splicing alterations.

Main Results:

  • 130 high-confidence splicing changes were identified, predominantly in the cortex.
  • Mis-spliced exons were found in genes critical for neuronal function, including neurotransmitter receptors and ion channels.
  • Severe splicing abnormalities correlated with longer CTG repeat expansions.
  • Upregulation of microglial and endothelial genes suggests neuroinflammation, while downregulation of neuronal genes indicates neuronal loss.
  • Many gene expression changes were strongly associated with mis-splicing events.

Conclusions:

  • RNA mis-splicing is a significant contributor to CNS pathology in Myotonic dystrophy.
  • Splicing alterations in the brain are distinct from those in peripheral tissues.
  • The identified splicing changes and gene expression patterns offer potential biomarkers for DM CNS disease.
  • These findings provide a foundation for further mechanistic studies and therapeutic interventions targeting DM CNS.