biostudies-literatureCilleros-Holgado PInstituto de Salud Carlos IIIMinisterio de Sanidad, Spain; and the Fondo Europeo de Desarrollo Regional (FEDER Unión Europea), Spanish Ministry of Education, Culture, and SportJunta de AndalucíaEuropean Regional Development Fund (ERDF) and by the Regional Ministry of Economic Transformation, Industry, Knowledge, and Universities of the Junta de Andalucía598https://www.ebi.ac.uk/biostudies/studies/S-EPMC11118892biostudies-literatureUnknown14(5)Primary mitochondrial diseases result from mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) genes, encoding proteins crucial for mitochondrial structure or function. Given that few disease-specific therapies are available for mitochondrial diseases, novel treatments to reverse mitochondrial dysfunction are necessary. In this work, we explored new therapeutic options in mitochondrial diseases using fibroblasts and induced neurons derived from patients with mutations in the <i>GFM1</i> gene. This gene encodes the essential mitochondrial translation elongation factor G1 involved in mitochondrial protein synthesis. Due to the severe mitochondrial defect, mutant <i>GFM1</i> fibroblasts cannot survive in galactose medium, making them an ideal screening model to test the effectivenessBiomoleculesPolydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.PMC11118892FIS PI19/00377 (2019)CTS-5725, PY18-850 and UPO-FEDER 2018 (UPO-1380614)FIS PI22/00142 (2022)PY18-850UPO-FEDER 2018UPO-1380614FIS PI19/00377 (2019) and FIS PI22/00142 (2022)CTS-5725Sanchez-Alcazar JACilleros-Holgado PReche-Lopez DRomero-Gonzalez AAlvarez-Cordoba MTalaveron-Rey MGomez-Fernandez DRomero Dominguez JMSuarez-Rivero JMPinero-Perez ROliveira MCLopez-Cabrera ARodriguez-Sacristan AfalsePolydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.Primary mitochondrial diseases result from mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) genes, encoding proteins crucial for mitochondrial structure or function. Given that few disease-specific therapies are available for mitochondrial diseases, novel treatments to reverse mitochondrial dysfunction are necessary. In this work, we explored new therapeutic options in mitochondrial diseases using fibroblasts and induced neurons derived from patients with mutations in the <i>GFM1</i> gene. This gene encodes the essential mitochondrial translation elongation factor G1 involved in mitochondrial protein synthesis. Due to the severe mitochondrial defect, mutant <i>GFM1</i> fibroblasts cannot survive in galactose medium, making them an ideal screening model to test the effectiveness2024-01-01T00:00:00Z2024 May2026-04-24T03:15:01.486Z2026-04-24T03:09:43.537ZS-EPMC111188923878600510.3390/biom14050598