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Research Groups
Group U727
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Montoya Villarroya, Julio
Group members
STAFF MEMBERS: Emperador Ortiz, Sonia | López Gallardo, Ester.
ASSOCIATED MEMBERS: Llobet Sese, Laura | López Pérez, Manuel José | Ruiz Pesini, Eduardo.
Main lines of research
• Genetic and molecular diagnosis of mitochondri- al disorders and study of the physiopathogenic mechanism of mutations. Rescue of the normal phenotype by transfection of the patient fibro- blast wit the wild-type gene.
• StudyofmtDNApopulationgeneticvariantscon- ferring susceptibility to multifactorial diseases.
• Characterizationofenvironmentalorgeneticfac- tors interacting with the genetic pool in suscepti- bility development.
• Search of drugs acting on the OXPHOS system.
• Humanchronicfatigueandpainsyndromes.
• Useofstemcellasamodelforhestudyofphys- iopatologic mechanism of the new mutations in the mitochondrial DNA.
• mtDNA variation and neurodegenerative diseas- es.
• Improvementofthemodelofcybridsforthestudy of pathological mutations.
92 I Annual report 2015 I CIBERER
