Research Project

DNA mutations in human mitochondrial disease and ageing

Principal Investigator: Professor Doug Turnbull  and Professor Rob Taylor

Project Details

My research focuses on three areas:

• Identifying underlying genetic causes for patients with mitochondrial disease and investigating how these mutations contribute to disease. I am particularly interested in homoplasmic mtDNA mutations (mutations affecting all mtDNA molecules) and nuclear DNA mutations.

• Investigating the role of mitochondria in female reproductive ageing. Increasing evidence suggests mitochondrial ageing may underlie oocyte ageing. I am investigating the functional and structural integrity of oocyte mitochondria and their DNA to identify defects that may accumulate with age.

• Understanding disease mechanisms. I am investigating disease progression in mitochondrial disease, developing single cell analytical methods and next generation sequencing.

Contact: helen.tuppen@ncl.ac.uk or Tel: +44 (0)191 222 6291
Funders/Collaborators: Wellcome Trust, Newcastle University and The Lily Foundation
Collaborators: Dr David Deng (Life Technologies, USA)