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Updated: Oct 12, 2025
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Epigenetics of Myotonic Dystrophies: A Minireview
Virginia Veronica Visconti1, Federica Centofanti1, Simona Fittipaldi1
1Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome "Tor Vergata", Via Montpellier 1, 00133 Rome, Italy.
Abstract:
Myotonic dystrophy type 1 and 2 (DM1 and DM2) are two multisystemic autosomal dominant disorders with clinical and genetic similarities. The prevailing paradigm for DMs is that they are mediated by an in trans toxic RNA mechanism, triggered by untranslated CTG and CCTG repeat expansions in the DMPK and CNBP genes for DM1 and DM2, respectively. Nevertheless, increasing evidences suggest that epigenetics can also play a role in the pathogenesis of both diseases. In this review, we discuss the available information on epigenetic mechanisms that could contribute to the DMs outcome and progression. Changes in DNA cytosine methylation, chromatin remodeling and expression of regulatory noncoding RNAs are described, with the intent of depicting an epigenetic signature of DMs. Epigenetic biomarkers have a strong potential for clinical application since they could be used as targets for therapeutic interventions avoiding changes in DNA sequences. Moreover, understanding their clinical significance may serve as a diagnostic indicator in genetic counselling in order to improve genotype-phenotype correlations in DM patients.
Insights
Epigenetic factors like DNA methylation and chromatin remodeling may influence myotonic dystrophies (DM1 and DM2). Understanding these epigenetic changes could lead to new diagnostic tools and therapies for DM patients.
Area of Science:
- Genetics
- Molecular Biology
- Epigenetics
Background:
- Myotonic dystrophies (DM1 and DM2) are genetic disorders.
- The established cause is toxic RNA from repeat expansions.
- Emerging evidence suggests epigenetic involvement.
Purpose of the Study:
- To review epigenetic mechanisms in DM pathogenesis.
- To explore the potential of epigenetic biomarkers for DM.
- To improve genotype-phenotype correlations in DM.
Main Methods:
- Literature review of epigenetic mechanisms in DM.
- Analysis of DNA methylation changes.
- Examination of chromatin remodeling.
- Investigation of noncoding RNA expression.
Main Results:
- Identified DNA methylation, chromatin remodeling, and noncoding RNAs as potential epigenetic contributors to DM.
- Highlighted the potential for an 'epigenetic signature' in DM.
- Discussed the clinical implications of epigenetic biomarkers.
Conclusions:
- Epigenetic mechanisms play a role in DM1 and DM2.
- Epigenetic biomarkers offer potential for diagnostics and therapeutics.
- Further research can improve genetic counseling and patient outcomes.
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