The increasing application of next generation sequencing approaches to the analysis of human exome and whole genome data has enabled the identification of novel variants and new genes involved in mitochondrial diseases. The ability of surviving in the absence of oxidative phosphorylation (OXPHOS) and mitochondrial genome makes the yeast Saccharomyces cerevisiae an excellent model system for investigating the role of these new variants in mitochondrial-related conditions and dissecting the molecular mechanisms associated with these diseases. The aim of this review was to highlight the main advantages offered by this model for the study of mitochondrial diseases, from the validation and characterisation of novel mutations to the dissection of the role played by genes in mitochondrial functionality and the discovery of potential therapeutic molecules. The review also provides a summary of the main contributions to the understanding of mitochondrial diseases emerged from the study of this simple eukaryotic organism.

The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases / Ceccatelli Berti, Camilla; di Punzio, Giulia; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia. - In: GENES. - ISSN 2073-4425. - 12:2(2021), p. 300. [10.3390/genes12020300]

The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases

Ceccatelli Berti, Camilla;di Punzio, Giulia;Dallabona, Cristina;Baruffini, Enrico;Goffrini, Paola;Lodi, Tiziana;Donnini, Claudia
2021-01-01

Abstract

The increasing application of next generation sequencing approaches to the analysis of human exome and whole genome data has enabled the identification of novel variants and new genes involved in mitochondrial diseases. The ability of surviving in the absence of oxidative phosphorylation (OXPHOS) and mitochondrial genome makes the yeast Saccharomyces cerevisiae an excellent model system for investigating the role of these new variants in mitochondrial-related conditions and dissecting the molecular mechanisms associated with these diseases. The aim of this review was to highlight the main advantages offered by this model for the study of mitochondrial diseases, from the validation and characterisation of novel mutations to the dissection of the role played by genes in mitochondrial functionality and the discovery of potential therapeutic molecules. The review also provides a summary of the main contributions to the understanding of mitochondrial diseases emerged from the study of this simple eukaryotic organism.
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases / Ceccatelli Berti, Camilla; di Punzio, Giulia; Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia. - In: GENES. - ISSN 2073-4425. - 12:2(2021), p. 300. [10.3390/genes12020300]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2891441
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