Aberrant Splicing of <i>DNM1L</i> Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1)
Together, these findings reveal that expanded (CUG)n RNA toxicity in DM1 disrupts cardiac bioenergetics through the missplicing of critical mitochondrial fission transcripts. These misspliced transcripts represent potential therapeutic targets for improving mitochondrial function and cardiac symptoms of DM1.
Authors
- Oluwafolajimi Adesanya (ORCID: https://orcid.org/0000-0002-8716-7457)
- Angela M. Betancourt
- Auinash Kalsotra (ORCID: https://orcid.org/0000-0002-1011-0006)
- Pouya Nabie (ORCID: https://orcid.org/0009-0002-6353-0319)
Institutions
- University of Illinois Urbana-Champaign (US)
- University of Illinois Chicago (US)
- Chan Zuckerberg Initiative (United States) (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1161/circgen.125.005492
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00