Objetivo Mitochondrial functions are crucial for organism biogenesis development and survival. Their biogenesis and maintenance involve extremely complex processes that require diverse and well-coordinated regulatory pathways. Most of the mitochondrial disorders are due to dysfunction of the respiratory chain. Both mitochondrial and nuclear genomes encode respiratory chain components. Mutations in either genome can cause respiratory chain dysfunction. Coenzyme Q (CoQ) is an electron carrier in the respiratory chain and its deficiency impairs oxidative phosphorylation and causes clinically heterogeneous mitochondrial diseases. Eight genes have been identified in the human genome required for CoQ biosynthesis, although the existence of another genes may be involved. We hypothesize that mutations in any of these genes could cause primary CoQ deficiency and mutations in different genes may explain the clinical heterogeneity of this syndrome. We propose in this project the integration of basic and applied research in a multidisciplinary effort to coordinate the expertise of different European research groups and enterprises. We propose the development of a reliable and easily applicable molecular procedure to reach an unequivocally diagnostic of the genetic origin of mitochondrial diseases that course with primary CoQ deficiency. Research activities are grouped in four work packages (WPs) that will incorporate the scientific objectives. A group of another WPs will include innovation activities such as protection and exploitation of products. Demonstration activities will be carried out in a WP dedicated to the standardization and testing of products. Management will be highly considered by the establishment of internal controls both in science and finances. A special attention will be dedicated to training and mobility activities. Also, activities related to gender and ethical aspects are considered in two WPs. Ámbito científico social scienceseconomics and businesseconomicsmonetary and financesnatural sciencesbiological sciencesgeneticsmutationnatural sciencesbiological sciencesgeneticsgenomes Palabras clave Mitochondrial diseases molecular diagnosis Programa(s) FP6-LIFESCIHEALTH - Life sciences, genomics and biotechnology for health: Thematic Priority 1 under the Focusing and Integrating Community Research programme 2002-2006. Tema(s) LSH-2003-1.2.2-3 - Molecular diagnostics in mitochondrial diseases Convocatoria de propuestas FP6-2003-LIFESCIHEALTH-I Consulte otros proyectos de esta convocatoria Régimen de financiación STREP - Specific Targeted Research Project Coordinador UNIVERSIDAD PABLO DE OLAVIDE Aportación de la UE Sin datos Dirección CARRETERA DE UTRERA, KM.1 SEVILLA España Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos Participantes (5) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo HOSPITAL UNIVERSITARIO 12 DE OCTUBRE España Aportación de la UE Sin datos Dirección AVENDA DE CORDOBA S/N MADRID Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos UNIVERSITA DI PADOVA Italia Aportación de la UE Sin datos Dirección VIII FEBBRAIO 2 PADOVA Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos STOCKHOLMS UNIVERSITET Suecia Aportación de la UE Sin datos Dirección Universitetsvaegen 10 STOCKHOLM Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos TECHNISCHE UNIVERSITAET DRESDEN Alemania Aportación de la UE Sin datos Dirección Helmholtzstrasse 10 DRESDEN Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos NEWBIOTECHNIC, S.A. España Aportación de la UE Sin datos Dirección ZARAGOZA 52 SEVILLA Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos
