Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1R671C/- mice

ABSTRACT: Hepatoencephalopathy due to mutations in the nuclear gene GFM1, known as combined oxidative phosphorylation (OXPHOS) deficiency type I (COXPD1), is an autosomal recessive mitochondrial disease caused by defects or deficiency of the mitochondrial translation elongation factor G1 (EFG1), with no currently available cure. Patients with COXPD1 develop a severe encephalopathy, sometimes combined with liver failure, with neonatal onset and rapid progression that normally causes premature death. The Gfm1R671C/- mouse recapitulates the COXPD1 molecular phenotype in liver and brain, with drastic reduction of EFG1 levels, impaired mitochondrial translation and OXPHOS deficiency. We conducted a gene therapy study using two different recombinant adeno-associated virus (rAAV) vectors targeting the live

SUBMITTER: Miguel Molina-Berenguer 

PROVIDER: S-SCDT-10_1038-S44321-026-00426-4 | biostudies-other |

REPOSITORIES: biostudies-other