BSB Seminar: Molecular mechanisms underscoring mitochondrial disease

Dr Diana Stojanovski (front row, middle) with the lab members


Mitochondrial diseases (MDs) are the largest and most common group of inherited metabolic disorders. They comprise over 350 monogenic diseases and affect at least one child born each week in Australia. “Primary” MDs are caused by mutations in mitochondrial DNA (mtDNA), which encodes 37 genes, or in over 100 nuclear genes encoding oxidative phosphorylation (OXPHOS) subunits, assembly factors and proteins required for mtDNA maintenance and expression. "Secondary" MDs are caused by mutations in over 100 nuclear genes with a secondary impact on OXPHOS complexes or that have other functions, such as protein transport, protein and organelle quality control or morphology. Using an experimental pipeline that couples molecular and omics approaches, we tackle tissue-specific functions of mitochondrial proteins and mechanisms underscoring mitochondrial dysfunction in MD. Here I will present some of our latest work uncovering the molecular function and disease associations of the SFXN4 protein. 


Dr Diana Stojanovski is a mitochondrial biologist located in the Department of Biochemistry and Pharmacology at the University of Melbourne and the Bio21 Institute. Her team researches the molecular mechanisms underscoring mitochondrial diseases linked to fundamental mitochondrial pathways like protein trafficking.

Diana obtained her PhD from La Trobe University in 2006 where she worked with Prof. Mike Ryan on the emerging topic of mitochondrial dynamics. In 2006, she moved to the University of Freiburg as an Alexander von Humboldt research fellow working with Prof. Nikolaus Pfanner on protein translocation systems in yeast mitochondria. She returned to La Trobe University in 2009 as an Australian post-doctoral fellow and in 2013 she was recruited to the University of Melbourne to start her independent research group.