The mainmilestones achieved by our group in 2021 can be summarized as follows:
1-We completedthe characterization of a mouse model for a rare disease, the combined OXPHOS dysfunction due to mutations in GFM1 (Molina-Berenguer et al, FASEB J;doi:10.1096/fj.202100819RRR). This achievement allowed us to initiate of our ongoing testing of gene therapy forthis disease in this preclinical model.
2-We found a new role for the protein NDUFA10, a subunit of the mitochondrial OXPHOS Complex I. We demonstrated that this protein binds most mitochondrial dGTP, finding that constituted the PhD thesis of David Molina, presented in October 2021. Given the involvement of dNTPs in mitochondrial diseases, this novel physiological trait will be important to better understand the pathomechanisms of these disorders.
3-We generated a mobile app for McArdle disease patients (mov2improv), useful to empower patients to self-manage theirdisease, thus contributing to improve their quality of life.
