Before commencing my PhD, I had completed my undergraduate study at Northumbria University with a First Class in BSc Biomedical Sciences. I then went on to complete my Masters in Research (MRes) at Newcastle University, studying Genetic Medicine. It was from here that I was able to pursue my interest in neuromuscular diseases and learn about mitochondrial diseases in greater detail.
As a PhD student, I work under the supervision of both Professor Sir Doug Turnbull and Professor Robert Taylor. My research is based on a recently developed quadruple immunofluorescent assay targeting subunits of Complex I, IV, Porin and Laminin. This assay was established by Dr Mariana Rocha and it allows for a sensitive measure of oxidative phosphorylation deficiency in mitochondrial myopathies. This is an interesting and important project to be undertaking and will hopefully lead to a better understanding of mitochondrial myopathies.
Understanding mitochondrial myopathies
Principal Investigators: Professor Sir Doug Turnbull and Professor Robert Taylor
My project aims are the following,
- To assess and validate the use of quadruple immunofluorescent assay in improving the current diagnostic setting – particularly for Complex I patients.
- Use the assay to establish the threshold for deficiency of each complex (I and IV) in patients with the mutation m.3243 A>G in the mitochondrial DNA tRNALeu(UUR) gene.
To understand the consequence of the defect in individual respiratory chain complexes, I will use single cell RNA sequencing and single cell proteomics to understand the mechanisms.
Sponsor/Funder: Wellcome Trust Centre, MRC, The Newcastle upon Tyne Hospitals NHS foundation trust.
Hardy, S.A., Blakely, E.L., Purvis, A.I., Rocha, M.C., Ahmed, S., Falkous, G., Poulton, J., Rose, M.R., O’Mahony, O., Bermingham, N., Dougan, C.F., Ng, Y.S., Horvath, R., Turnbull, D.M., Gorman, G.S. and Taylor, R.W. (2016) ‘Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy’, Neurology Genetics, 2(4), p. e82.
Ludwig KU, Ahmed ST, Böhmer AC, Sangani NB, Varghese S, Klamt J, et al. (2016) Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene. PLoS Genet 12(3): e1005914. doi:10.1371/journal.pgen.100591