Following my master’s degree in Medical Biology, I received a PhD in Cell biology at the University of Durham. As a Research Associate I joined the Mitochondrial Research Group in 2011.
I’m interested in neurodegenerative disorders associated with mitochondrial dysfunction. My principal aim is to further understand how pathogenic mutations in mitochondrial tRNA synthetases are linked human diseases.
Role of mitochondrial tRNA synthetases in neurodegeneration.
Principal Investigator: Dr Rita Horvath
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes; their primary role is to charge specific amino acids to their cognate transfer RNAs (tRNAs) as a first step of protein synthesis. The human nuclear genome harbours 37 ARS loci: 18 that encode a cytoplasmic enzyme, 17 that encode a mitochondrial enzyme, and two that encode a bi-functional enzyme that charges tRNA for both cytoplasmic and mitochondrial protein translation. One of the bi-functional enzymes is the glycyl-tRNS synthetase (GARS) which has been linked to Charcot-Marie-Tooth (CMT) disease. The main focus of my research to investigate how dominant GARS mutations affect the mitochondrial function and lead to peripheral neuropathy.
This project involves the generation of in vitro cellular models by cellular re-programming. Using this unique method, skin biopsies from patients (fibroblasts) are being used to generate neuronal cells to study the tissue specific impact of several pathogenic CMT mutations on mitochondrial functions.
Sponsor/funder: Wellcome Trust