01/01/2020 → 31/12/2020
The University of Melbourne
Regulation of one carbon metabolism in Sengers syndrome.
Mitochondrial diseases are a major health burden with a prevalence rate of at least 1 in 5,000.
These devastating diseases are complex, with highly variable presentations and there are currently
no effective treatments. There is no one solution fits all with Mito, therefore my labs research aims
to obtain a molecular footprint of individual mitochondrial diseases with a view to identify
pathways that could serve as therapeutic targets. Our research into Sengers syndrome has
revealed an unexpected role of one-carbon metabolism, a group of biochemical reactions involved
in amino acid and nucleotide metabolism. As part of this funding we will explore how Sengers
syndrome leads to dysregulation in one-carbon metabolism and if this contributes to the
mitochondrial pathogenesis observed in this mitochondrial disease.