Mitochondrial disorders (MD) are a group of rare clinically heterogeneous conditions, due to an impairment in the process of oxidative phosphorylation, responsible for the synthesis of ATP. MD may manifest at any age and in virtually any organ, although brain, skeletal muscle, liver and heart are most frequently involved because of their high-energy demand (mitochondrial encephalocardio-myopathies). Actually for these diseases no proven effective therapies exist. For the current project we have taken advantage of specific models of MD in Saccharomyces cerevisiae, previously characterized in our laboratory. The human pathological mutations studied are relative to the genes MPV17, ANT1, POLG, and PANK2. The aim of the project is evaluating the effects of thousands of chemical substance in these yeast experimental models, to identifiy molecules with beneficial effects on specific MD or with a general positive influence on mitochondrial functioning. For this aim we adopted an extensive genetic screening of drugs, called Drug Drop Test, in yeast models. The identified molecules were further characterized in yeast in order to better understand their impact on mitochondrial functionality. The confirmation of the positive preliminary data obtained in this study could lead to new pharmacological approaches for MD.

Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases / Gilberti, Micol; CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Degiorgi, Andrea; Baruffini, Enrico; Dallabona, Cristina. - (2017). ((Intervento presentato al convegno AGI - Associazione Genetica Italiana tenutosi a Cortona (Arezzo, Italia) nel 7-9 settembre 2017.

Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases.

Micol Gilberti;Camilla Ceccatelli Berti;Giulia Di Punzio;DEGIORGI, ANDREA;Baruffini Enrico;Cristina Dallabona
2017-01-01

Abstract

Mitochondrial disorders (MD) are a group of rare clinically heterogeneous conditions, due to an impairment in the process of oxidative phosphorylation, responsible for the synthesis of ATP. MD may manifest at any age and in virtually any organ, although brain, skeletal muscle, liver and heart are most frequently involved because of their high-energy demand (mitochondrial encephalocardio-myopathies). Actually for these diseases no proven effective therapies exist. For the current project we have taken advantage of specific models of MD in Saccharomyces cerevisiae, previously characterized in our laboratory. The human pathological mutations studied are relative to the genes MPV17, ANT1, POLG, and PANK2. The aim of the project is evaluating the effects of thousands of chemical substance in these yeast experimental models, to identifiy molecules with beneficial effects on specific MD or with a general positive influence on mitochondrial functioning. For this aim we adopted an extensive genetic screening of drugs, called Drug Drop Test, in yeast models. The identified molecules were further characterized in yeast in order to better understand their impact on mitochondrial functionality. The confirmation of the positive preliminary data obtained in this study could lead to new pharmacological approaches for MD.
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases / Gilberti, Micol; CECCATELLI BERTI, Camilla; DI PUNZIO, Giulia; Degiorgi, Andrea; Baruffini, Enrico; Dallabona, Cristina. - (2017). ((Intervento presentato al convegno AGI - Associazione Genetica Italiana tenutosi a Cortona (Arezzo, Italia) nel 7-9 settembre 2017.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2861609
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