I undertook my undergraduate degree in Biomedical Sciences at Durham University, followed by an MRes in Stem Cells and Regenerative Medicine at Newcastle University. As part of this, I began a research project within the WCMR which formed the basis of my current PhD project. After completing my MRes, my supervisors and I were so passionate about the project that I continued to work at the centre for another year as a research technician before securing funding for my PhD with the DiMeN doctoral training partnership.
The role of blood cell dynamics and intracellular selection in the decline of the heteroplasmic mitochondrial DNA mutation m.3243A>G in blood.
m.3243A>G was first associated with a devastating syndrome known as MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) but we now know this variant is associated with a huge spectrum of other symptoms. Due to this, understanding how disease may progress in individuals over their lifetime is difficult; currently, an estimate of m.3243A>G level in the blood at birth is used to predict disease course in patients. An estimate is calculated as, in blood, the number of mitochondrial DNA molecules which carry the m.3243A>G variant decreases with age; this is a unique phenomenon and understanding why & how this is occurring could be key in helping those suffering from m.3243A>G-related disorders.
My project uses blood samples donated from individuals who carry the m.3243A>G variant. I investigate different immune cells of the blood to try to understand the dynamics of the variant and how different cells respond to differing m.3243A>G levels
Sponsor/funder: MRC DiMeN DTP