Mitochondria in cell physiology and pathology
1. OPA1 pathophysiology. OPA1 is a nuclear gene encoding for the mitochondrial GTPase OPA1, present in eight isoforms in mammalians, whose mutations cause autosomal dominant optic atrophy, the most common hereditary optic neuropathy. OPA1 has been shown to be required for mitochondrial fusion and cristae structural maintenance, thus influencing also apoptosis. The project aims at evaluating whether different OPA1 mutations affect the energetic competence of fibroblasts derived from patients. 2. Mitochondrial DNA mutations and cancer predisposition. Mitochondrial DNA mutations are associated also to some types of tumour. The aim of the project is to identify the molecular signals, generated by mitochondria bearing mtDNA mutations, promoting tumour progression. To this purpose, we will take advantage of oncocytoma cells and a set of cybrids recently developed in our laboratory and of a wide collection of tumor biopsies. 3. Oxidative phosphorylation dysfunction and permeability transition pore. Opening of the inner membrane permeability transition pore (PTP), a high-conductance channel, has been implicated in cell death. In this study we investigate whether the voltage threshold for PTP opening is influenced by mtDNA mutations affecting cytochrome b, using a wide collection of cell lines available in our lab.
Research Group
Anna Ghelli (Research Associate)
Anna Maria Porcelli Research Associate
Michela Rugolo (Associate professor)
Claudia Zanna (Post-doc)
Sara Vidoni (PhD student)
Mariantonietta Capristo (PhD student)
