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RESEARCH GROUPS
Group U722
Programme: Mitochondrial and Neuromuscular Medicine
Lead Researcher: Cardellach, Francesc Group Members
STAFF MEMBERS: Garrabou Tornos, Gloria AT THE EXPENSE OF THE PROJECT: Morén Núñez, Constanza | González Casabuerta, Ingrid ASSOCIATED MEMBERS: Catalán García, Marc | Grau Junyent, Josep Maria
Main lines of research
• Creation of the Group for Medical Assistance of Adult Patients with Rare Diseases (basically of meta- bolic and mitochondrial origen, among others) .
• Mitochondrial Pathology: Mitochondrial basis of disease and cell processes . • Muscular Pathology (mitochondrial, inflammatory, autoinmune and toxic, especially due to statin
treatment) .
• Toxicity induced by drugs that cause clinic manifestations of mitochondrial origen (Lipodystrophy, hyperlactatemia, peripheral neuropathy, infertility, obstetric problems, miopathy) .
• Toxicity induced by tobacco and carbon monoxide that cause clinic manifestations of mitochondrial origen .
• Mitochondrial basis of Parkinson disease associated to mutations in Parkin and LRRK2 genes (rare forms of the disease) .
• Mitochondrial basis of body inclusion myositis . • Mitochondrial function in the study of gene therapy in MNGIE . • Mitochondrial implication in X-Fragile Syndrome . • Mitochondrial basis on intrauterine growth restriction and cardiovascular fetal remodeling .
106 CIBERER » Annual report 2014