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MITOCHONDRIAL AND NEUROMUSCULAR MEDICINE
Mitochondrial and Neuromuscular Medicine Programme: consisting of 12 research groups from different areas, specialising in the study of the physiological and functional aspects of the mitochondrion in different tissues, as well as their implication in a number of diseases (therapeutic research), particularly in neuromuscular pathologies .
Rare Diseases Studied:
• Inherited and sporadic encephalomyopathies of mitochondrial DNA (mtDNA) (it would include entities such as KSS, MELAS, MERRF, LHON, NARP/MILS, cardiomyopathies, hearing loss and mitochondrial diabetes, etc .) .
• mtDNA maintenance syndromes: depletion syndromes and syndromes with multiple mtDNA deletions, such as MNGIE, PEO, SANDO, Alpers syndrome, etc .
• Diseases of the OXPHOS system associated with nuclear and assembly genes (impairments of OXPHOS subunits and assembly factors, pathologies affecting mitochondrial transcription and translation, syndromes associated with coenzyme q deficiency) .
• Neuromuscular diseases: muscular dystrophies, spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, ALS, myasthenia gravis and congenital myasthenias, inflammatory myopathies, hereditary and acquired ataxias, Friedreich’s ataxia, myasthenias .
Objective: To address diseases with mitochondria as the physiopathological target affecting an individual’s bioenergy balance . The proposed specific objectives are:
• to study genome-mitochondrial communication,
• to study the physiopathology and mechanisms of disease in cellular models and iPSC, and
• to conduct therapeutic research, ranging from the development of animal models up to the pre- clinical stage, biomarkers, particularly in neuromuscular pathologies .
Groups forming the RP:
• Scientific Coordinator: Dr . Miguel Ángel Martín Casanueva, U723 • Dr . Ramón Martí Seves, U701 • Dr . José M . Cuezva , U713 • Dr . Rafael Garesse, U717
• Dr . Francesc Cardellach, U722 • Dr . Julio Montoya, U727 • Dr . Plácido Navas, U729 • Dr . Francesc Palau Martínez, U732 • Dra . Jorgina Satrústegui, U743
• Dr . Javier Díaz Nido, U748 • Dra . Isabel Illa Sendra, U762 • Dr . Juan J . Vilchez Padilla, U763 • Mónica Bescós, RP Scientific Manager
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