I originally studied Classical Studies, graduating with an upper second class from Newcastle University but had always been interested in genetic diseases. I went to a local college to take a Biology A level before studying Human Genetics at Newcastle University, graduating with a First class. During this time, I gained experience through various work placements in industry, NHS cytogenetics and an academic placement working on nuclear gene expression. In my final year, I was introduced to mitochondria and mitochondrial diseases and wanted to pursue this further. Studying at the Wellcome Trust Centre for mitochondrial research enables me to combine my interest in mitochondrial diseases and gene expression whilst working in a great laboratory.
Principal Investigators: Professor Z.M.A. Chrzanowska-Lightowlers, Professor R.N. Lightowlers, Professor R.W. Taylor
Mitochondria are vital organelles that provide our cells with utilisable form of energy, namely ATP. Of the proteins that form a functional mitochondrion, some are encoded by the nucleus and the remaining 13 are encoded by the mitochondrial genome. However, the functions of many of the nuclear encoded proteins are still unknown.
Patients with mitochondrial disease have dysfunctional mitochondria. This can be a consequence of mutations in either the mtDNA or the nuclear genome and many mutations that result in mitochondrial disease have been identified. Some of these mutations correspond to the nuclear-derived mitochondrial proteins whose function remains unknown. My project aims to use patient cell lines with defects in multiple OXPHOS complexes where the cause is likely to be in these uncharacterised mitochondrial proteins in order to determine their role in mitochondrial homeostasis. This will help us gain a better understanding of how mitochondria function as well as providing a definitive genetic diagnosis for these patients.