Page 121 - CIBERER2016-ENG

Most relevant scientific articles
• Alcazar-Fabra M., Navas P., Brea-Calvo G. Coenzyme Q biosynthesis and its role in the respiratory chain structure. Biochimica et Biophysica Acta - Bioenergetics. 2016.
• Cascajo M.V., Abdelmohsen K., Noh J.H., Fernandez-Ayala D.J.M., Willers I.M., Brea G. et al. RNA- binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7. RNA Biology. 2016;1-13.
• Scialo F., Sriram A., Fernandez-Ayala D., Gubina N., Lohmus M., Nelson G. et al. Mitochondrial ROS Produced via Reverse Electron Transport Extend Animal Lifespan. Cell Metabolism. 2016;23(4):725-734.
• Guaras A., Perales-Clemente E., Calvo E., Acin-Perez R., Loureiro-Lopez M., Pujol C. et al. The CoQH2/CoQ Ratio Serves as a Sensor of Respiratory Chain Efficiency. Cell Reports. 2016;15(1):197-209.
• Mitchell S.J., Madrigal-Matute J., Scheibye-Knudsen M., Fang E., Aon M., Gonzalez-Reyes J.A. et al. Effects of Sex, Strain, and Energy Intake on Hallmarks of Aging in Mice. Cell Metabolism. 2016;23(6):1093- 1112.
Hightlights
During the year 2016 the group has maintained his activity combining the activity in translational science base on the biochemical and genetic diagnostic and the basic genetic and molecular research in mitochondrial pathologies with putative deficiency in coenzyme Q. We maintain an active consortium with the groups of Rafael Artuch and Antonia Ribes in CIBERER, including the foreign researchers: Leonardo Salviati (Padova University), Sandra Jackson (Dresden University) y Iain Hardgreaves (University College London Hosp).
The goals of the group during 2016 have been:
1. The European Medicines Agency (EMA) has accepted our proposal for the acceptance of ubiquinol as orphan medicament for the treatment of the primary deficiency in CoQ10. (EU/3/16/1765).
2. We continue working on the analysis of the phenotype of a transgenic mice model of ADCK2+/- KO that show deficiency in coenzyme Q but, for first time in this type of diseases, demonstrates an specific deficiency of CoQ in skeletal muscle without neurological affectation.
3. We continue carrying out a project to find putative therapies in CoQ deficiency based on bioactive compounds with a project financed by the Andalusian Government in collaboration with the Medina Foundation in Granada.
4. During 2016 we maintain a diagnostic service focussed on the mitochondrial pathology and the analysis of coenzyme Q in muscle biopsies and/or primary fibroblasts from patients of public and private hospitals of Andalucia. We maintain an European Consortium for the diagnostic of coenzyme Q deficiency in which we collaborate with determinations of the amount of coenzyme Q, its synthesis and functional complementation. We maintain our services with the analysis of changes in mitochondrial DNA and test for the molecular diagnostic of lysosomal diseases for public and private hospitals.
5. Our group also continues with the study of the COQ4 gene and its repercussion in the deficiency of coenzyme Q.
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