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March 21, 2026International Journal of Molecular Sciences3 citationsOpen Access

RNA Therapeutics for Duchenne Muscular Dystrophy: Exon Skipping, RNA Editing, and Translational Insights from Genome-Edited Microminipig Models

ACAlex ChassinHOHiroya OnoYAYuki Ashida

Key Points

  • The aim is to explore RNA-based therapeutic approaches for Duchenne muscular dystrophy using advanced models.
  • Review of antisense oligonucleotides for exon skipping and RNA editing techniques.
  • Evaluation of therapeutic delivery strategies using genome-edited microminipig models.
  • Analysis of clinical progress related to exon skipping and RNA editing in DMD.
  • Antisense oligonucleotides targeting specific exons provide mutation-class-specific benefits.
  • Genome-edited microminipigs exhibit key characteristics of human Duchenne muscular dystrophy.
  • RNA editing holds promise for correcting genetic defects and restoring dystrophin expression.

Abstract

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease (NMD) caused by loss-of-function mutations in the DMD gene. RNA-based therapies, especially antisense oligonucleotides (ASO)-mediated exon skipping and adenosine deaminase acting on RNA (ADAR)-guided RNA editing, have emerged as complementary approaches that modulate pre-mRNA splicing or correct transcripts without altering genomic DNA. Current phosphorodiamidate morpholino oligomer (PMO) drugs targeting exons 51, 53, and 45 provide mutation-class-specific benefit. At the same time, next-generation delivery strategies (e.g., peptide-conjugated PMOs (PPMOs), antibody–oligonucleotide conjugates (AOC), and endosomal-escape vehicles) aim to improve skeletal, cardiac, and diaphragm exposure. In parallel, RNA editing strategies offer a route to correct select nonsense or missense variants at the base level and may, in principle, restore near-native dystrophin expression. Meaningful translation of these modalities requires predictive large-animal models. A genome-edited microminipig (MMP) bearing DMD exon-23 mutations faithfully recapitulates hallmark features of human DMD. That includes early locomotor deficits, elevated serum creatine kinase (CK) and cardiac troponin T, progressive myocardial fibrosis, and a decline in left-ventricular ejection fraction (LVEF), while maintaining a manageable lifespan of approximately 30 months suitable for long-term studies. In particular, the MMP model provides a practical platform for addressing the persistent challenge of efficient therapeutic delivery to the heart and diaphragm through longitudinal dosing, imaging, and biopsy. In this review, we synthesize clinical progress in exon skipping, outline the promise of RNA editing, and integrate recent insights from Duchenne muscular dystrophy model for microminipigs (DMD-MMPs) as an advanced surrogate for preclinical development and translational evaluation.

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Cite This Study

Chassin et al. (2026) studied this question.

synapsesocial.com/papers/69be38b56e48c4981c679582https://doi.org/10.3390/ijms27062755
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