A simple organism to address big questions: how Saccharomyces cerevisiae can support mitochondrial medicine

During my Ph.D. I focused on several aspects of mitochondrial functions. In particular, many variants were identified by different collaborators through NGS techniques in nine different genes encoding for proteins involved in six mitochondrial macro-pathways. I studied and characterized these variants exploiting the yeast Saccharomyces cerevisiae as a model system to verify their pathogenicity (validate them) and/or to deepen our knowledge of the involved pathways. Both heterologous and homologous complementation approaches were used, depending on the gene, to have the most suitable disease model. The effect of rationally selected molecules/formulations was also tested on specific disease models (COQ7, SURF1, and PITRM1 models) to identify novel pharmacological therapies since no effective treatment exists for mitochondrial diseases (MDs). Overall, the data obtained using the yeast Saccharomyces cerevisiae allowed to support mitochondrial medicine highlighting how such a “simple” model organism, used beside bioinformatic tools (sequencing, omics analyses and protein modeling), can be useful and allow a key step forward in the study of mitochondrial disorders (MDs) and their treatment.