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Research Groups
Group U743
Programme: Mitochondrial and Neuromuscular Medicine Lead Researcher: Satrústegui Gil-Delgado, Jorgina
Group members
STAFF MEMBERS: Contreras Balsa, Laura
AT THE EXPENSE OF THE PROJECT: Martínez Valero, Paula. ASSOCIATED MEMBERS: De Arco Martínez, Araceli.
Main lines of research
• Global Cerebral Hipomyelination. Pathogenic mechanisms of the disease caused by mutations in aralar/AGC1 studied with the use of AGC1 KO mice. Effects on myelination, formation of brain N-acetyl-aspartate, glial glutamate and glutamine synthesis. Possible implication of aralar/AGC1 inl diseases characterized by low levels of brain N-acetylaspartate.
• Charcot-Marie-Tooth disease. Alterations in cal- cium signaling mechanisms, particularly calcium signaling to mitochondria in forms of CMT caused by mutations in GDAP1 and MFN2.
• Mitochondrial pathology: 1. Possible implication of SCaMCs in mitochondrial diseases character- ized by deletions in DNAmit deletions and oph-
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thalmoplegia, 2) Possible implication of muta- tions in SCaMC-3 in human disease associated with deletions or depletion of liver, but not muscle, DNAmit.
Regulation of calcium signaling to mitochondria and calcium handling by mitochondria. Role of the calcium uniporter and calcium regulated mito- chondrial carriers Aralar/AGC1 and SCaMCs. Role of these carriers in deregulation of mitochondrial calcium. Involvement in human pathology.
Tissue-specific mechanisms of oxidative phos- phorylation regulation.
Mitochondrialretrogradesignalingtonucleiasa possible target in mitochondrial pathologies.
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