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Related Experiment Video

Updated: Sep 11, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1.

Aono Fukumoto1, Tomoki Yamanaka1, Motoaki Yanaizu2

  • 1Clinical Neurophysiology, Department of Clinical Laboratory and Biomedical Sciences, Graduate School of Medicine, The University of Osaka, 1-7 Yamadaoka, Suita, Osaka, 565-0871, Japan.

Human Molecular Genetics
|August 13, 2025
PubMed
Summary

Myotonic dystrophy type 1 (DM1) causes liver dysfunction and lipid abnormalities due to altered gene expression and splicing. MBNL1 protein deficiency contributes to these DM1-related hepatic changes.

Keywords:
MBNLlivermRNAmousemyotonic dystrophy

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Area of Science:

  • Genomics
  • Molecular Biology
  • Hepatology

Background:

  • Myotonic dystrophy type 1 (DM1) results from expanded CTG repeats, impacting multiple organs.
  • Muscleblind-like (MBNL) protein sequestration by CUG repeat RNAs is a key pathogenic event.
  • Liver dysfunction and lipid abnormalities are common DM1 symptoms but are understudied.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying DM1-related liver abnormalities.
  • To analyze transcriptome changes in DM1 patient livers and Mbnl-knockout mouse models.
  • To identify specific genes and pathways affected by DM1 in the liver.

Main Methods:

  • Transcriptome analysis using RNA-sequencing on postmortem DM1 patient livers and Mbnl-knockout mouse livers.
  • Differential gene expression (DEG) analysis and aberrant splicing detection.
  • Comparative analysis between Mbnl1- and Mbnl2-knockout mouse models.

Main Results:

  • RNA-sequencing revealed significant DEGs and aberrant splicing in DM1 livers.
  • MBNL1 deficiency partially explained transcriptomic changes observed in DM1 patients.
  • Identified DEGs related to lipid metabolism and liver fibrosis; uncovered sex-specific pathway alterations.
  • Aberrant splicing clusters included genes involved in lipid and glucose metabolism.
  • Correlated splicing abnormalities with elevated serum gamma-glutamyl transferase levels.

Conclusions:

  • DM1 significantly alters liver gene expression and splicing, impacting lipid metabolism and potentially causing fibrosis.
  • MBNL1 plays a crucial role in mediating DM1-associated hepatic transcriptomic changes.
  • These findings offer new molecular insights into DM1-related metabolic and hepatic complications.