Priya Rai

• MBBS
• Investigating the association between mitochondrial DNA copy number and clinical disease severity in patients with the m.3243A>G mutation

Mitochondria are ‘powerhouses’ within the cells. Understandably, mutations in these organelles lead to energy deficits and consequent pathology in the body. One such mutation is m.3243A>G, which can cause a bewildering array of clinical symptoms. However, why different patients have different symptoms is not understood. My project investigated the association between mitochondrial abundance in muscle tissue and the symptoms experienced by the patients. It was found that this was a better predictor of neurological and cardiovascular symptoms in the patient, compared to current predictors. We, therefore, concluded that copy number could explain the clinical heterogeneity associated with this mutation.

Project Supervisor: Dr John Patrick Grady, Institute of Neuroscience

Funding source: INSPIRE