I joined the Wellcome Centre for Mitochondrial Research at Newcastle University in 2013 to complete my PhD with Professor Doug Turnbull, Professor Robert Taylor and Dr Rita Barresi. I completed my PhD in May 2017 and continued as a post-doctoral scientist in the Centre.
In 2019 I was awarded a Sir Henry Wellcome Fellow. My fellowship aims to understand how mitochondrial DNA deletions clonally expand with age and disease, with a focus on the impact of skeletal muscle biology. I also supervise and work on a range of projects investigating mechanisms of mitochondrial dysfunction in skeletal muscle and mitochondrial disease progression.
What is driving the clonal expansion of mitochondrial DNA deletions?
Principal Investigator: Dr Amy Vincent
Mitochondrial DNA mutations and mitochondrial respiratory chain deficiency arise in a mosaic pattern within the skeletal muscle of patients with mitochondrial myopathy. However, they are also found in a number of other myopathies and in ageing skeletal muscle. My work looks to investigate mitochondria dysfunction and associated pathogenic mechanisms in both mitochondrial and other myopathies. This is being approached from three angles:
- Understanding how a single mtDNA mutation can accumulate throughout life in skeletal muscle, a process termed clonal expansion.
- Investigating what role muscle specific architecture, mitochondrial organisation and morphology has on clonal expansion and the pathogenesis of mitochondrial disease.
- Investigating what metabolic and mito-nuclear signalling processes are instigated in respiratory chain deficient muscle fibres.