I am a final year MRC funded PhD student supervised by Professor Henry Houlden, Professor Dimitri Kullmann and Professor Mike Hanna. During my PhD, I have been studying the genetics and mechanisms behind a number of Mendelian-inherited neurological disorders presenting with progressive or episodic neurological symptoms. These include a childhood motor neuropathy where my findings supported a mechanistic role for mitochondrial dysfunction. For this study we used fibroblasts and fixed brain tissue from patients and I also generated a Drosophila model for the disease. I observed the mitochondrial impairment at the level of individual complexes, which in turn led to abnormal mitochondrial membrane potential, respiratory chain activity and morphology with swollen vacuoles coupled with fragmented mitochondrial cristae. In addition, the Drosophila model for this disease exhibited severely impaired locomotor activity and reduced life span, mirroring patient pathology. I have moreover shown that these phenotypes could be rescued using a novel esterified derivative of riboflavin and so validated the compound as a potential therapeutic strategy.
Andreea is now a Postdoctoral Research Associate of the Gage Lab at the Salk Institute in San Diego, USA.