Hospital 12 de Octubre

Partner 2: H12O
Team leader: Joaquin Arenas, M.D., Ph.D (Hospital 12 de Octubre, Madrid)
Team members:

  • Rafael Garesse, Ph.D (Autonoma University, Madrid)
  • Rafael Artuch, M.D. (Hospital Sant Joan de Deu, Barcelona)
  • Julio Montoya, Ph.D. (University of Zaragoza)

Partner 2 (H12O) integrates a number of key clinical research laboratories that work under the MITOESPAÑA network supported by the Spanish Minister of Health. Collectively, MITOESPAÑA represents a comprehensive collaborative effort to integrate all actors involved in the mitochondrial research field in Spain. The network is formed by several clinical research and basic research groups that work together in the field of mitochondrial disorders. MITOESPAÑA was launched as a collaborative action during the period 2003-2006 and it is expected that, if succeeded, it will continue until 2010. In this framework, the main scientific objectives of MITOESPAÑA are perform a clinical and epidemiological study of mitochondrial disorders in Spain, determining morbidity and mortality indexes in the Spanish population. That includes the analysis of clinical histories and creates one common protocol for diagnosis. A second aim is investigate the molecular and biochemical origins of all diseases with mitochondrial involvement and with unknown origin.

As clinical and basic investigators, the members of the net have as a one of the main aims the research of the molecular and biochemical mechanisms involved in the diseases in study. Dr. J. Arenas has a vast experience in clinical encephalomyopathies, and his laboratory is a Spanish center of reference for the diagnostic and study of mitochondrial disorders. Prof. J. Montoya has centered his scientific activity on the basic aspects of mitochondrial physiology, especially on molecular mechanisms of translation of mitochondrial genome, and also molecular pathomechanisms for diseases caused by mutations in mtDNA. Dr. Garesse’s expertise encompasses a broad variety of aspects of mitochondrial pathology. His lab is focused on studies related to the assessment of the pathogenicity of novel mutations identified in mtDNA of patients with different phenotypes of mitochondrial disease using in vitro and cellular strategies. This researcher is also involved in mechanisms of mitochondrial biogenesis in models of D. melanogaster. Dr. R. Artuch’s group specializes on mitochondrial disorders in pediatric patients has identified the first pediatric cases of patients with primary CoQ10 deficiency in Spain.

The partner 2 is equipped with the following services: fluorescent microscopy, DNA sequencing, flow cytometry, real time PCR, image analysis system: optical and chemiluminiscence, advanced spectrophotometers, Clark electrode, ultracentrifuge and basic equipment in nucleic acid and protein analysis.

Partner 2 will collectively provide the Clinical Research expertise to the proposal as well as the biological samples of patients with primary CoQ10 deficiency. In addition, their members will develop all expression assays developed in Specific aim #5 about genes involved in the Q biosynthesis pathway and in a complementary view the expression of OXPHOS-genes that are affected by the homeostasis of Q.

Contact: Alberto García Redondo

Ubigenes :: Genetics of coenzyme Q deficiency in humans