A correct mitochondrial gene expression is essential for both energy metabolism and mitochondrial function. Remarkably, around 20% of the mitochondrial proteome is devoted to mtDNA expression and maintenance, and over 60 genes involved in mitochondrial RNA metabolism have been found mutated in patients suffering from mitochondrial disorders. These diseases are clinically and genetically heterogeneous disorders, characterized by an OXPHOS dysfunction, which can present at any age with a wide spectrum of different symptoms and clinical manifestations.Individually considered mitochondrial disorders are rare, however, collectively they represent the most usual cause of inborn errors of metabolism.

Our group seeks to answer the question ‘How is mitochondrial gene expression regulated, and what happens when it fails?’ To address this, we combine the use of human cell lines, Drosophila, and mouse models to study how the processing, maturation, and translation of mitochondrial RNAs contribute to the biogenesis of OXPHOS system. We aim to understand how defects in these processes lead to mitochondrial dysfunction and ultimately, disease. In parallel, we are generating and characterizing Drosophila models of mitochondrial disorders, to identify the molecular mechanisms that underlie the disorders and to identify potential targets to design new therapies.