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Anna Maria Ghelli

Associate Professor

Department of Pharmacy and Biotechnology

Academic discipline: BIO/10 Biochemistry


Keywords: mitochondria Leber's Hereditary Optic Neuropathy apoptosis complex I OPA1 Dominant Optic Atrophy cancer

Mitochondrial DNA haplogroup background and environmental toxics in Leber's hereditary optic neuropathy. The project aims at determining the influence of mtDNA haplogroup background in cell death following exposure to different environmental toxics in order to explain some aspects of the penetrance of the disease in the population.

OPA1 isoforms and functions . OPA1 is a nuclear gene encoding for the mitochondrial dynamin-related GTPase OPA1, 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 the apoptotic pathway. The occurrence of eight isoforms in mammalians is likely to explain multiple OPA1 functions. The project aims at evaluating the role of OPA1 on mitochondrial DNA integrity and stability, possibly identifying the protein domains involved in this function. Interaction between OPA1 and other proteins will be analyzed by means of biochemical and genetic analysis to gain information on its cellular functions.

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 subunits of the oxidative phosphorylation complexes. Our aim is to assess whether PTP opening may represent the final common pathway through which respiratory chain defects cause cell death.

Mitochondrial DNA mutations and cancer predisposition. In addition to various neurodegenerative disorders, mitochondrial DNA mutations are associated also to some types of tumour. The aim of the project is the identification of the molecular signals, generated by mitochondria bearing mtDNA mutations, and directed to the nucleus to promote cell survival and tumour progression. We will take advantage of oncocytoma cell models recently developed in our laboratory and of a wide collection of tumor biopsies.

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