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• Mitochondrial dynamics and autophagy: i) Role of mitochondrial dynamics and autophagy (and mitophagy) in cell models of mitochondrial disorders; ii) mitochondrial and authopagy paathway abnormalities using a graft versus host murine model t .
• Oxygen consumption as in vivo marker of mitochondrial disorders.
Most relevant scientific articles
• Garcia-Consuegra I., Blazquez A., Rubio J.C., Arenas J., Ballester-Lopez A., Gonzalez-Quintana A. et al. Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in Medicine. 2016;18(11):1128-1135.
• Pérez-Pérez R, Lobo-Jarne T, Milenkovic D, Mourier A, Bratic A, García-Bartolomé A et al. COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.Cell reports. 2016;16(9):2387-98.
• Martin M.A., Garcia-Silva M.T., Barcia G., Delmiro A., Rodriguez-Garcia M.E., Blazquez A. et al. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. Clinical Genetics. 2016.
• Fiuza-Luces C., Nogales-Gadea G., Garcia-Consuegra I., Pareja-Galeano H., Rufian-Vazquez L., Perez L.M. et al. Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model. Medicine and Science in Sports and Exercise. 2016.
• Fiuza-Luces C., Santos-Lozano A., Garcia-Silva M.T., Martin-Hernandez E., Quijada-Fraile P., Marin- Peiro M. et al. Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry. Clinical Nutrition. 2016.
Hightlights
At the clinical-translational level we are National Refence Center (CSUR) mitochondrial and inherited metabolic disorders (coordinator Dr. García-Silva), and we have been included in an European reference network (ERN). The use of NGS approaches has enable to identify novel mutations in genes related to the OXPHOS function which has been associated to complex phenotypes (e.g. ATP8A2 gene and MTO1 gene
– Dr. Martínez-Azorín). We have studied the role of the COX7A2L protein in the assembly pathway of the mitochondrial supercomplexes and the respirasoma structure (Dr. Ugalde). We evaluated parameters of indirect calorimetry in pediatric patients (Dr. Silva and Dr. Morán). In collaboration with the U701 (Dr. Martí), we have advanced the multicenter personalized medicine ISCIII-FIS project, identifying new patients using NGS with mutations in nuclear genes associated with maintenance of mtDNA, and specifically establishing the clinical and laboratory parameters for the evaluation of the treatment with nucleosides in patients with TK2 mutations (Dr. Domínguez). We are finishing the intramural project ACCI (with U713 and U701)
on the detection of differential bioenergenetic protein biomarkers of the mitochondrial PEO phenotype. With Dr. Desviat (U746), we have collaborated on the analysis of mitochondrial dysfunction in the propionic acidemia. In collaboration with Prof. Simarro (U. Valladolid) we have investigated the role of FASTKD3 protein in the mitochondrial post-transcriptional regulation.
In McArdle’s disease (GSDV) we have accomplished the EU project of European Registry of patients, and we have published several articles related to genetics, pathophysiology and intervention with physical exercise in collaboration with U701; IGTIP (Dr. Nogales-Gadea) and UEM(Prof. Lucía); and we are developing an ISCIII project (Dr. Arenas) in the field of proteomics and genomics of the GSDV as well as a recent approved ACCI. In ALS we have participated in several large international studies for discovering new genes associated with the disease (Dr. Garcia-Redondo).
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research groups 107