Mitochondria are responsible for converting food energy into cellular energy. They rely on genetic information from two sources; DNA on chromosomes in the nucleus and their own DNA (mtDNA). Mutations in either can cause disease. The most common mtDNA mutation, m.3243A>G, causes a devastating syndrome that results in uncontrolled seizures, strokes and early death. However, large numbers of m.3243A>G carriers have different symptoms, including diabetes and deafness. m.3243A>G can affect any organ, at any age and with any degree of severity.
I am interested in the interaction between nuclear genetic variation and mtDNA variation and how this influences clinical outcome. My project involves using clinical and genetic data from families who carry m.3243A>G in order to identify nuclear genetic variation that modifies the clinical phenotype.
The discovery of genetic risk factors for m.3243A>G-related disease will improve our understanding of this common mitochondrial disease and allow clinicians to tailor patient treatment and advice.