My main research interest is mitochondriology in health and disease. In particular, I have focussed on the human mitochondrial genome (mtDNA). It is the only extranuclear source of DNA and is found in hundreds or even thousands of copies in each cell in the body. Human mtDNA encoded 13 essential proteins. They are fundamental constituents of the machinery that couples ATP synthesis to cellular respiration, a process termed oxidative phosphorylation. As ATP is the chemical currency of the cell, it is not surprising that defects in any of these critical proteins can cause disease. Indeed, mtDNA mutations have been associated with common neurodegenerative disorders and in the process of ageing itself.
Currently, I have projects that focus on the molecular aetiology of mitochondrial disease, treatment regimes for these disorders, mitochondrial genetics and a large concern in mitochondrial gene expression in man. This recently led to our discovery that part of the mitochondrial genetic code had been incorrectly deciphered since its establishment in 1981.
These projects have substantial overlaps and by detailing a process of mitochondrial transfection, we hope to be able to manipulate the mitochondrial genome and to establish the fundamentals of mitochondrial gene expression.