Application of novel genetic technologies to characterise the interactions of the mitochondrial gene expression machinery and the mitochondrial inner membrane

Recent research has unearthed many key pathways driving mitochondrial gene expression, however the mechanisms by which these pathways interact with the mitochondrial inner membrane remained a mystery. Using patient cells and CRISPRCas9edited cell lines, I have characterised the mix of coordinated and stochastic mechanisms by which the mitochondrial gene expression machinery and mitochondrial inner membrane interact to facilitate optimal oxidative phosphorylation complex assembly and support mitochondrial function. Additionally, I have demonstrated the ways in which defects in these mechanisms drive cell dysfunction and the key role they play in human disease pathogenesis.