Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1R671C/− mice
mice. Successful transduction of the liver and the brain was observed after four weeks, entailing substantial recovery from mitochondrial EFG1 depletion and OXPHOS correction in both tissues, which demonstrates that transgenic human EFG1 is functional in mouse mitochondrial translation. Our study constitutes the first evidence supporting AAV-mediated gene therapy as a potential treatment for COXPD1.
Authors
- Ferran Vila‐Julià (ORCID: https://orcid.org/0000-0002-3180-2749)
- Miguel Molina‐Berenguer (ORCID: https://orcid.org/0000-0001-8087-4709)
- Antoni Vallbona-Garcia (ORCID: https://orcid.org/0000-0002-1946-3035)
- Ramón Martí (ORCID: https://orcid.org/0000-0002-8273-9540)
- Javier Torres‐Torronteras (ORCID: https://orcid.org/0000-0002-6092-9458)
- África Vales (ORCID: https://orcid.org/0009-0000-4507-8117)
- Yolanda Cámara (ORCID: https://orcid.org/0000-0003-2458-6942)
- Gloria Gonzalez-Aseguinolaza
- Diego Herrero-Martínez
Institutions
- Vall d'Hebron Institut de Recerca (ES)
- Pasqual Maragall Foundation (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Del Mar (ES)
- Institute for Bioengineering of Catalonia (ES)
- Chartered Institute of Management Accountants (GB)
Publication Details
- Journal
- EMBO Molecular Medicine
- Published
- 2026-04-17
- DOI
- https://doi.org/10.1038/s44321-026-00426-4
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundación Mutua Madrileña
- European Commission
- Generalitat de Catalunya
- Ministerio de Ciencia e Innovación
- Fundació Institut de Recerca Hospital Universitari Vall d’Hebron