Mitochondrial and Neuromuscular Medicine

Mitochondrial and Neuromuscular Medicine Programme:  made up of thirteen research groups from different fields, specialising in the study of physiological and functional aspects of the mitochondria in different tissues (therapeutic research) as well as the neuromuscular pathology area.

Rare diseases studied

  • Inherited sporadic encephalomyopathies of the mitochondrial DNA (mtDNA). (This would cover such entities as the KSS, MELAS, MERRF, LHON, NARP/MILS, myocardiopathies, mitochondrial deafness and diabetes etc.).
  • mtDNA maintenance syndromes:depletion syndromes and syndromes with multiple deletions of the mtDNA such as MNGIE; PEO, SANDO, S. Alpers, etc..
  • Diseases of the OXPHOS system associated with nuclear and assembly genes (alterations of OXPHOS subunits and assembly factors, pathologies affecting mitochondrial translation and transcription, syndromes associated with Q coenzyme deficiency).
  • Neuromuscular diseases: : muscular dystrophies, spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, SMA, Myasthenia gravis and congenital myasthenia, inflammatory myopathies, inherited and acquired ataxias, Friedreich’s ataxia.


To tackle the diseases whose physiopathological target is the mitochondria and which affect the individual’s bioenergy balance.

The specific objectives set are:

  1. To study genome-mitochondria communication.
  2. To study study physiopathology and disease mechanismsin cell models and iPSC;.
  3. Clinical characterisation of  neuromuscular pathologies and correlation between the clinical phenotype and the genotype (or proteomic characterisation) of these.
  4. Development of animal models based  based on genotypically identified dystrophies.
  5. Study of the physiopathology of neuromuscular diseases.
  6. Therapeutic research  based on the development of animal models to the preclinical stage, biomarkers, especially in neuromuscular pathologies.

Research groups PdI