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Research Groups
Group U701
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Martí Seves, Ramón
Group members
STAFF MEMBERS: Cámara Navarro, Yolanda | Pinós Figueras, Tomás.
ASSOCIATED MEMBERS: Andreu Périz, Antonio Luis | Brull Cañagueral, Astrid | Carreño Gago, Lidia | García
Arumi, Elena | Meliá Grimal, María Jesús | Ortega González, Francisco Javier | Torres Torronteras, Javier.
Main lines of research
• Mechanisms of pathogenicity of mtDNA structur- al gene mutations.
• Genetic and biochemical study of mitochondrial DNA depletion syndromes: MNGIE, depletion due to TK2 or dGK deficiency and other. Implications in the control of the nucleotide pool.
• TherapeuticapproachesforMNGIEandothermi- tochondrial DNA depletion syndromes.
• McArdle disease: study of pathomechanisms and potential therapeutic approaches.
• Characterization and study of the pathomecha- nisms involved in the limb-girdle muscular dys- trophhy caused by mutations in the TNPO3 gene (LGMD1F).
40 I Annual report 2015 I CIBERER
