ArticleMolecular therapy. Nucleic acids2018
Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.
Article in Molecular therapy. Nucleic acids, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
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- A Manual for Genome and Transcriptome Engineering.IEEE reviews in biomedical engineering · 2025Review
- Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies.International journal of molecular sciences · 2024Review
- RNA exon editing: Splicing the way to treat human diseases.Molecular therapy. Nucleic acids · 2024Review
- Repurposing CRISPR-Cas13 systems for robust mRNA trans-splicing.Nature communications · 2024Article
- The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024Review
- Fulfilling the Promise of RNA Therapies for Cardiac Repair and Regeneration.Stem cells translational medicine · 2023Review
- Review
- Preclinical Advances of Therapies for Laminopathies.Journal of clinical medicine · 2021Review
- Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment.Frontiers in cardiovascular medicine · 2021Review
- Therapeutic applications of trans-splicing.British medical bulletin · 2020Article
- Skipped Over: Tuning Natural Killer Cells Toward HIV Through Alternative Splicing.AIDS research and human retroviruses · 2020Article
- Lamin A/C Assembly Defects inCells · 2020Article
- Skeletal muscle in health and disease.Disease models & mechanisms · 2020Review
- Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?European cardiology · 2020Review
- A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy.Molecular therapy. Methods & clinical development · 2019Article
- Novel Therapies for Prevention and Early Treatment of Cardiomyopathies.Circulation research · 2019Review
- Gene therapy strategies in the treatment of hypertrophic cardiomyopathy.Pflugers Archiv : European journal of physiology · 2019Review
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the benefit of corresponding wild-type (WT) transcripts. We developed 5'-RNA pre-trans-splicing molecules containing the first five exons of Lmna and targeting intron 5 of Lmna pre-mRNA. Among nine pre-trans-splicing molecules, differing in the targeted sequence in intron 5 and tested in C2C12 myoblasts, three induced trans-splicing events on endogenous Lmna mRNA and confirmed at protein level. Further analyses performed in primary myotubes derived from an LMNA-related congenital muscular dystrophy (L-CMD) mouse model led to a partial rescue of the mutant phenotype. Finally, we tested this approach in vivo using adeno-associated virus (AAV) delivery in newborn mice and showed that trans-splicing events occurred in WT mice 50 days after AAV delivery, although at a low rate. Altogether, while these results provide the first evidence for reprogramming LMNA mRNA in vitro, strategies to improve the rate of trans-splicing events still need to be developed for efficient application of this therapeutic approach in vivo.
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