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- The Biogenesis and Mitochondrial Pathology group, led by Julio Montoya, is a reference for national and international hospitals with more than 3.500 cases analyzed.
- This agreement will allow us to continue with a line of work opened three years ago to demonstrate the pathogenicity of new mutations detected in nuclear DNA
Improve the quality of life of those affected by mitochondrial diseases, which are currently very difficult to diagnose and untreated, and promote research in this area. This is the objective of the agreement signed between the University of Zaragoza and the Association of Patients with Mitochondrial Pathology, a national entity, which has once again placed its trust in the Biogenesis and Mitochondrial Pathology research group, directed by Julio Montoya Villarroya, Professor of Biochemistry and Molecular Biology.
Thanks to this agreement, endowed with 66.000 euros, the Aragonese public campus will continue researching these diseases caused by defects in the mitochondria of cells, responsible for generating most of the energy necessary for life's activities.
Mitochondrial diseases have multisystem involvement, are usually congenital, and are suffered by one in every 5.000 newborns. Mitochondrial diseases mainly affect tissues that have a high metabolic demand such as the nervous, muscular, cardiac, ocular and endocrine systems. Mitochondrial disease is mainly due to a chronic loss of cellular energy, that is, cellular energy needs cannot be met.
Precisely, the Mitochondrial Biogenesis and Pathology research group is a benchmark in Spain and Europe. For 30 years, this laboratory at the University of Zaragoza has been carrying out genetic-molecular studies of mitochondrial diseases, serving hospitals in a wide geographical area in Spain and abroad. Thus, around 3.500 cases with possible mitochondrial disease from Spain and some countries in Europe, North Africa, the Middle East and South America have been studied and the pathogenicity of the new mutations found has been determined.
Mitochondrial diseases can be caused by mutations in both the mitochondrial and nuclear genomes, which encode most of the cell's proteins. However, it is estimated that only between 15 and 30% of pediatric diseases, diagnosed as mitochondrial diseases, show mutations in the mitochondrial genome (mtDNA); The rest of the cases are caused by defects in nuclear-encoded mitochondrial protein genes (nuclear DNA).
With the signed agreement, this research group - made up of a dozen experts - will open a new line of research into the nuclear genome of cells. Biochemist Pilar Bayona Bafaluy, member of the Biogenesis and Mitochondrial Pathology research group, will be in charge of leading this new line of work that allows the “Confirmation of pathogenicity of mutations in nuclear DNA associated with mitochondrial pathology.”
