Dr Joe Bateman & Professor C Ballard
Understanding the basic processes that lead to neurodegeneration is of great importance in an increasingly long-lived society. Mitochondria supply the majority of cellular ATP and have additional important roles in calcium signalling, apoptosis and lipid metabolism. Mutations in or loss of mitochondrial DNA (mtDNA) can cause mitochondrial disease. Mitochondrial DNA Depletion Syndrome (MDS) is caused by reduction in mtDNA copy number. MDS is a phenotypically heterogeneous disorder whose symptoms include myopathy, ataxia and neurodegeneration. Several genes have been identified that affect mtDNA copy number and mutations in these genes have been shown to lead to MDS.
We aim to use the fruitfly, Drosophila melanogaster, as a model to study how mtDNA is normally maintained and how loss of mtDNA leads to MDS-like phenotypes. By using the genetic and physiological advantages of flies, we will visualize and quantify mtDNA in the CNS.