1-We have published the characterization of a mouse model for the combined OXPHOS dysfunction due to mutations in GFM1 (Molina-Berenguer et al, FASEB J 2022). We have used this model to test an AAV-based gene therapy which has demonstrated to prevent the HEPATIC phenotype in mice. 2-We have published our finding that the protein NDUFA10, a subunit of the mitochondrial OXPHOS Complex I, tightly binds most mitochondrial dGTP (Molina-Granada et al, Commun Biol, 2022). Given the important role of dNTPs in mitochondrial diseases, this novel physiological trait will be important to better understand the pathomechanisms of these disorders. 3- In Villarreal-Salazar et al (Mol Metab, 2022) we have confirmed very poor VO2peak values and impaired muscle glycolytic flux in McArdle disease patients, and found that their severe muscle oxidative capacity impairment could be explained by a mitochondrial network disruption, at least in those fibres with a higher capacity for glycogen accumulation.
eCOREs
