Neurodegeneration with brain iron accumulation (NBIA) comprehends a wide spectrum of clinically and genetically heterogeneuos diseases characterized by neurodegeneration and iron overload in specific brain areas. Mutations in PANK2, encoding for the mitochondrial enzyme panthotenate kinase 2 which catalyzes the first step in the Coenzyme A (CoA) biosynthesis, account for about 50% of NBIA cases. Coenzyme A (CoA) is a key metabolite in all living organisms being involved in several metabolic processes including metabolism of fatty acids, carbohydrates, amino acids and ketone bodies. Recently Coenzyme A synthase (COASY) gene has been identified as a novel NBIA-associated gene, supporting the concept that a dysfunction in CoA synthesis may play a role in the pathogenesis of NBIA. To gain more insights into the potential role of CoA in NBIA and of its relationship with brain iron accumulation, we have developed a yeast model that expresses a pathogenic COASY mutation found in patients. In this model phenotypic and biochemical investigation such as measurement of the CoA levels, assessment of OXPHOS, sensitivity to oxidative stress has been performed.

Modeling human coasy mutations in yeast Saccharomyces cerevisiae / CECCATELLI BERTI, Camilla; Tosi, E.; Dusi, S.; Tiranti, V.; Goffrini, Paola. - STAMPA. - (2014), pp. 36-36. ((Intervento presentato al convegno XII FISV Congress tenutosi a Pisa nel 24-27/09/2014.

Modeling human coasy mutations in yeast Saccharomyces cerevisiae

CECCATELLI BERTI, Camilla;GOFFRINI, Paola
2014-01-01

Abstract

Neurodegeneration with brain iron accumulation (NBIA) comprehends a wide spectrum of clinically and genetically heterogeneuos diseases characterized by neurodegeneration and iron overload in specific brain areas. Mutations in PANK2, encoding for the mitochondrial enzyme panthotenate kinase 2 which catalyzes the first step in the Coenzyme A (CoA) biosynthesis, account for about 50% of NBIA cases. Coenzyme A (CoA) is a key metabolite in all living organisms being involved in several metabolic processes including metabolism of fatty acids, carbohydrates, amino acids and ketone bodies. Recently Coenzyme A synthase (COASY) gene has been identified as a novel NBIA-associated gene, supporting the concept that a dysfunction in CoA synthesis may play a role in the pathogenesis of NBIA. To gain more insights into the potential role of CoA in NBIA and of its relationship with brain iron accumulation, we have developed a yeast model that expresses a pathogenic COASY mutation found in patients. In this model phenotypic and biochemical investigation such as measurement of the CoA levels, assessment of OXPHOS, sensitivity to oxidative stress has been performed.
Modeling human coasy mutations in yeast Saccharomyces cerevisiae / CECCATELLI BERTI, Camilla; Tosi, E.; Dusi, S.; Tiranti, V.; Goffrini, Paola. - STAMPA. - (2014), pp. 36-36. ((Intervento presentato al convegno XII FISV Congress tenutosi a Pisa nel 24-27/09/2014.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2785225
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