Area 4

Muscle research and mitochondrial function

Team leader

Strategic objectives

  1. Muscular pathology of mitochondrial, inflammatory and autoimmune origin and diseases due to inborn errors of metabolism.
  2. Mitochondrial basis of rare diseases such as inclusion body myositis, Parkinson disease, X-fragile syndrome, and intrauterine growth restriction.
  3. Mitotoxicity.
  4. Mitochondrial involvement in physiologic and pathologic processes.
  5. Cardiomyopathy in chronic alcoholic patients.
  6. Chronic fatigue syndrome.
  7. Septic shock and organ failure in critically-ill patients.
  8. Journalology: research of editorial and ethical policies of biomedical journals.

Main lines of research
  1. Research in the establishment of the potential etiology, candidate biomarkers and therapeutic approaches to mitochondrial, inflammatory and autoimmune muscle diseases or pathologies due to inborn errors of metabolismof patients attended by the Group of Medical Care of Adult Patients with Rare Diseases (HCB).
  2. Research in other rare diseases with potential mitochondrial basis, such as inclusion body myositis, Parkinson disease (associated to mutations in Parkin and LRRK2 genes), X-fragile syndrome and obstetric problems (especially intrauterine growth restriction).
  3. Secondary mitochondrial pathology due to contact with toxic agents: gases as CO and NO, abuse drugs as tobacco, chemical products as methylene chloride, biological agents as HIV and pharmacological drugs as antibiotics, antipsychotics, antiretrovirals and hypolipemiant agents (statins).
  4. Mitochondrial dysfunction secondary to other medical problems (such as lipodystrophy, hyperlactatemia, peripheral neuropathy, sepsis, schizophrenia or infertility) and physiological processes (cell division, aging or inflammation).
  5. Study of the pathological mechanisms of alcohol upon the organ cells and its pathological effects at neurological and cardiocirculatory level: (i) Prognosis of alcoholic myocardiopathy and its best management options; (ii) Study of muscle and myocardial apoptosis in subjects presenting chronic alcohol abuse; (iii) Study of myocardial regeneration in alcoholic cardiomyopathy; (iv) Study of factors influencing in myocyte hyperthrophy (myostatin, IGF-1).
  6. Clinical and functional repercussions of chronic fatigue syndrome (CFS). (i) Evaluation of long-term effects of multidisciplinary treatment, (ii) Role and significance of co-morbid diseases in CFS, (iii) Influence of chemical and environmental factors in the pathogenesis of CFS.
  7. Clinical and translational research on septic shock and multiorgan failure. Research on antibiotic policies in critically-ill patients.
  8. Journalology of biomedical journals: research of editorial and ethical policies.

Our future challenges are:

  1. Deeply exploring mitochondrial basis of rare diseases with muscle and central nervous system involvement as well as secondary mitochondrial implication in toxicities, or physiological processes.
  2. Cardiomyopathy and chronic fatigue. Improving knowledge in physiopathological mechanisms leading to disease in alcoholic cardiomyopathy and also in chronic fatigue syndrome in order to prevent or delay development of disease and apply potential treatment strategies.
  3. To understand the pathophysiology in the development of organ failure in patients with severe sepsis and septic shock, as well as is to identify biological targets for prevention of organ damage.
  4. Medical publishing: Study of the open-access movement. Comprehensive comparison of the editorial and ethical policies of openaccess vs. non open-access journals through a case-control study.