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Research Groups

Mitochondrial energy metabolism

rafael_grup_provisional

Coordinators of the group

  • Rafael Artuch Iriberri

In this research line we have analysed the clinical and biochemical aspects of childhood mitochondrial encephalomyopathies due to the change of oxidative phosphorylation, and the effect of treatment with various therapies. This research line has been possible thanks to stable collaborations with reference centres within the context of the CIBERER network and the development of research projects financed and coordinated by FIS. We have developed a research line for the diagnosis of primary and secondary deficiencies of coenzyme Q. This research line has been possible thanks to the grant of three consecutive FIS projects for the investigation of this subject.

Development of the FIS project called "Phenotypic and molecular characterisation of the coenzyme Q deficiency syndrome". This project, which is coordinated with the research group of Pablo de Olavide University (UPO) in Sevilla, covers aspects of patient-oriented research (improvement of diagnostic tools, treatments with new drugs) and aspects of basic science relating to the development and phenotyping of mouse models with coenzyme Q deficiency. In this project, the activity of greatest importance is the analysis of the exome of 10 families with disorders of unknown origin who have in common a coenzyme Q deficiency. By means of this massive sequencing study, we hope to be able to identify new disorders.

Our transfer activities – aside from our scientific studies, which will be made known through the usual media: publications, presentations at conferences, meetings – will cover the aspect most closely applied to society through the use of the platform www.guiametabolica.org, just as we have previously explained. After conducting a clinical trial with ubiquinol (a new form of coenzyme Q), it is planned to request the EMA to grant the orphan designation for this drug.

Lastly, with respect to the internationalisation of our activity, it is planned to apply for a European project on coenzyme Q deficiencies in human pathology within the framework of the call for proposals Horizon 2020.