Wellcome Trust Centre For Mitochondrial Research

Amy Vincent


I completed my undergraduate study at The University of Nottingham, graduating with an upper second class MSci degree in Biochemistry and Genetics in 2013.

I moved to the Wellcome Centre for Mitochondrial Research (Newcastle University) in 2013 to complete my PhD, with Professors Doug Tunrbull, Robert Taylor and Dr Rita Barresi. My PhD, spanned a number of projects with the aim to investigate mitochondrial dysfunction in both mitochondrial myopathy and other neuromuscular diseases. The later part of my PhD focused on:  i) understanding the mechanism by which mitochondrial DNA mutations accumulate in age and disease, ii) three-dimensional quantification of the morphology of mitochondria in human skeletal muscle and iii) looking to understand the links between mitochondrial ultrastructure and function.

I completed my PhD in May 2017 and am now a Sir Henry Wellcome Fellow working with Professor Sir Doug Turnbull in the Wellcome Centre for Mitochondrial Research.

Research Project

Investigating Clonal Expansion of mtDNA mutations in skeletal muscle.
Principal Investigators: Professor Doug Turnbull

Project Details

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:

  1. Understanding how a single mtDNA mutation can accumulate throughout life in skeletal muscle, a process termed clonal expansion.
  2. Investigating what role muscle specific architecture, mitochondrial organisation and morphology has on clonal expansion and the pathogenesis of mitochondrial disease.
  3. Investigating what metabolic and mito-nuclear signalling processes are instigated in respiratory chain deficient muscle fibres.

Contact: amy.vincent@ncl.ac.uk.
Sponsor/funder: Wellcome

External links:
Staff Profile

PhD Students:

Julie Faitg
Alex Bury
Valeria De Leo
Charlotte Warren
Megan McNiff
Matthew Hunt


Lehmann, D., Tuppen, H.A.L., Campbell, G.E., Alston, C.L., Lawless, C., Rosa, H.S., Rocha, M.C., Reeve, A.K., Nicholls, T.J., Deschauer, M., Zierz, S., Taylor, R.W., Turnbull, D.M., Vincent, A.E. “Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level” Nucleic Acids Research. DOI: 10.1093/nar/gkz472

Vincent, A.E., White, K., Davey, T., Philips, J., Ogden, R.T., Lawless, C. Warren, C., Hall, M., Ng, Y.S., Falkous, G., Holden, T., Deehan, D., Taylor, R.W., Turnbull, D.M., Picard, M.. “Quantitative 3D mapping of the skeletal muscle mitochondrial network in health and mtDNA disease”. Cell Reports (2019) 26(4): 996-1009.

Syed T. Ahmed, Lyndsey Butterworth, Oliver M. Russell. Doug M. Turnbull, Amy E Vincent. Diagnosis and treatment of mitochondrial myopathies. Neurotherapeutics. 15(4): 943-953.

Vincent, A.E. Rosa, H.S., Pabis, K., Lawless, C., Chen, C., Grünewald, A., Rygiel, K.A. Rocha, M.C., Reeve, A.K., Falkous, G., et al.: “Sub-cellular origin of mtDNA deletions in human skeletal muscle”.  Annals of Neurology. DOI:10.1002/ana.25288.

Amy E. Vincent and Martin Picard: “Multi-level heterogeneity of mitochondrial respiratory chain deficiency” Journal of Pathology. DOI: 10.1002/path.5146

Amy E. Vincent, Doug M. Turnbull, Veronica Eisner, György Hajnóczky, Martin Picard: Mitochondrial nanotunnels. Trends in Cell Biology 09/2017; DOI: http://dx.doi.org/10.1016/j.tcb.2017.08.009

Amy E Vincent, Yi Shiau Ng, Kathryn White, Tracey Davey, Carmen Mannella, Gavin Falkous, Catherine Feeney, Andrew M Schaefer, Robert Mcfarland, Grainne S Gorman, Robert W Taylor, Doug M Turnbull, Martin Picard: The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports 09/2016; 6. DOI:10.1038/srep30610

Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull: Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscular Disorders 08/2016; DOI:10.1016/j.nmd.2016.08.004.

Amy E. Vincent, Hannah S. Rosa, Charlotte L. Alston, John P. Grady, Karolina A. Rygiel, Mariana C. Rocha, Rita Barresi, Robert W. Taylor, Doug M. Turnbull: Dysferlin mutations and mitochondrial dysfunction. Neuromuscular Disorders 08/2016; DOI:10.1016/j.nmd.2016.08.008.

Martin Picard, Amy E Vincent, Doug M. Turnbull: Expanding Our Understanding of mtDNA Deletions. Cell Metabolism 07/2016; 24(1). DOI:10.1016/j.cmet.2016.06.024

Karolina A. Rygiel, Helen A. Tuppen, John P. Grady, Amy Vincent, Emma L. Blakely, Amy K. Reeve, Robert W. Taylor, Martin Picard, James Miller, Doug M. Turnbull: Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Research 04/2016; 44(11). DOI:10.1093/nar/gkw382

Virgilio J. J. Cadete, Sonia Deschênes, Alexanne Cuillerier, François Brisebois, Ayumu Sugiura, Amy Vincent, Doug Turnbull, Martin Picard, Heidi M. McBride, Yan Burelle: Formation of Mitchondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system. The Journal of Physiology 06/2016;  DOI:10.1113/JP272703

Mariana C Rocha, John P Grady, Anne Grünewald, Amy Vincent, Philip F Dobson, Robert W Taylor, Doug M Turnbull, Karolina A Rygiel: A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: Understanding mechanisms and improving diagnosis. Scientific Reports 10/2015; 5. DOI:10.1038/srep15037

Mafalda Bacalhau, Marta Simões, Mariana C.Rocha, Steven A.Hardy, Amy E.Vincent, João Durães, Maria C.Macário, Maria João Santos, Olinda Rebelo, Carla Lopese, João Pratas, Cândida Mendes, Mónica Zuzarte, A. Cristin, Regoae, HenriqueGirãoa, Lee-Jun C.Wong, Robert W.Taylor, Manuela Grazina. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: report of the novel mtDNA m.7486G>A variant. Neuromuscular Disorders 11/2017; DOI.10.1016/j.nmd.2017.11.006