The Biochemistry of Oxidative Stress group analyses altered mitochondrial functions in a disease called Friedreich Ataxia caused by deficient levels of frataxin, a mitochondrial protein. In this pathology, there is an alteration in the mitochondrial calcium and iron homeostasis, which leads to alterations in the redox state of proteins, in the membrane potential and, in general, loss of mitochondrial functions. To study this pathology, we use primary cultures of neurons and cardiomyocytes, which are the most affected tissues in this disease; we also use a new mouse model called FXNI151F and lymphoblasts obtained from patients. Based on these results, we design therapeutic strategies trying to improve the quality of life of patients, since to date, there is no effective cure; in this regard, we are analysing the effects of calcitriol, the active form of vitamin D and also molecules focused on restoring mitochondrial membrane potential. These trials are carried out in collaboration with biopharma companies and also with hospitals, where pilot clinical trials are being initiated.
Alsina, D; Ros, J; Tamarit, J
Nitric oxide prevents Aft1 activation and metabolic remodeling in frataxin-deficient yeast
Redox Biology 14 131-141. .
Purroy, R; Britti, E; Delaspre, F; Tamarit, J; Ros, J
Mitochondrial pore opening and loss of Ca2+ exchanger NCLX levels occur after frataxin depletion
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1864 618-631. .
Joaquim Ros Salvador
Biomedicine I / Biomedicina I
4th floor / 4a planta