Volume 34, Issue 3 (6-2026)
JSSU 2026, 34(3): 10011-10023 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Mojarrad M, Eslahi A, Tanipur H, Zavar Reza J. Rescue of Dystrophin Protein Expression by Interfering of mRNA Processing. JSSU 2026; 34 (3) :10011-10023
URL: http://jssu.ssu.ac.ir/article-1-6326-en.html
URL: http://jssu.ssu.ac.ir/article-1-6326-en.html
Abstract: (90 Views)
Introduction: Exon skipping has emerged as one of the most promising therapeutic strategies for Duchenne muscular dystrophy (DMD), because it restores the correct reading frame of dystrophin mRNA without directly modifying the genome. Delivery systems based on adeno-associated virus (AAV) enable long-term expression of exon-skipping components and improve therapeutic efficiency.
Methods: In this study, an AAV-based vector encoding a modified U7 snRNA designed to induce skipping of dystrophin exon 51 was constructed using a ligase-independent cloning (LIC) strategy. Recombinant AAV particles were produced and used to transduce immortalized human myoblasts. Exon 51 skipping efficiency was evaluated by RT-PCR, and dystrophin protein expression was assessed by western blotting.
Results: RT-PCR findings demonstrated effective exon 51 skipping in the treated cells, producing a shortened dystrophin mRNA transcript. Western blot analysis revealed increased expression of a truncated but functional dystrophin protein in AAV-treated myoblasts compared to controls.
Conclusion: These results indicate that the engineered AAV-U7 system effectively induces exon 51 skipping and restores dystrophin expression at the protein level. The LIC-based platform enables rapid generation of personalized exon-skipping vectors and represents a versatile and scalable approach for the development of RNA-based gene therapies for DMD.
Methods: In this study, an AAV-based vector encoding a modified U7 snRNA designed to induce skipping of dystrophin exon 51 was constructed using a ligase-independent cloning (LIC) strategy. Recombinant AAV particles were produced and used to transduce immortalized human myoblasts. Exon 51 skipping efficiency was evaluated by RT-PCR, and dystrophin protein expression was assessed by western blotting.
Results: RT-PCR findings demonstrated effective exon 51 skipping in the treated cells, producing a shortened dystrophin mRNA transcript. Western blot analysis revealed increased expression of a truncated but functional dystrophin protein in AAV-treated myoblasts compared to controls.
Conclusion: These results indicate that the engineered AAV-U7 system effectively induces exon 51 skipping and restores dystrophin expression at the protein level. The LIC-based platform enables rapid generation of personalized exon-skipping vectors and represents a versatile and scalable approach for the development of RNA-based gene therapies for DMD.
Type of Study: Original article |
Subject:
Biochemistry
Received: 2024/11/12 | Accepted: 2025/05/6 | Published: 2026/06/5
Received: 2024/11/12 | Accepted: 2025/05/6 | Published: 2026/06/5
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
