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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Lookup NU author(s): Professor Grainne Gorman, Dr Andrew Schaefer, Dr Yi Ng, Dr Charlotte Alston, Catherine Feeney, Professor Rita HorvathORCiD, Dr Patrick Yu Wai Man, Professor Patrick Chinnery, Professor Robert Taylor, Emeritus Professor Doug Turnbull, Professor Bobby McFarlandORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


ObjectiveThe prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of mitochondrial disease has expanded significantly since the original reports that associated classic clinical syndromes with mitochondrial DNA (mtDNA) rearrangements and point mutations. The revolution in genetic technologies has allowed interrogation of the nuclear genome in a manner that has dramatically improved the diagnosis of mitochondrial disorders. We comprehensively assessed the prevalence of all forms of adult mitochondrial disease to include pathogenic mutations in both nuclear and mtDNA.MethodsAdults with suspected mitochondrial disease in the North East of England were referred to a single neurology center from 1990 to 2014. For the midyear period of 2011, we evaluated the minimum prevalence of symptomatic nuclear DNA mutations and symptomatic and asymptomatic mtDNA mutations causing mitochondrial diseases.ResultsThe minimum prevalence rate for mtDNA mutations was 1 in 5,000 (20 per 100,000), comparable with our previously published prevalence rates. In this population, nuclear mutations were responsible for clinically overt adult mitochondrial disease in 2.9 per 100,000 adults.InterpretationCombined, our data confirm that the total prevalence of adult mitochondrial disease, including pathogenic mutations of both the mitochondrial and nuclear genomes (approximate to 1 in 4,300), is among the commonest adult forms of inherited neurological disorders. These figures hold important implications for the evaluation of interventions, provision of evidence-based health policies, and planning of future services. Ann Neurol 2015 Ann Neurol 2015;77:753-759

Publication metadata

Author(s): Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2015

Volume: 77

Issue: 5

Pages: 753-759

Print publication date: 01/05/2015

Online publication date: 28/03/2015

Acceptance date: 08/01/2015

Date deposited: 30/06/2015

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: Wiley-Blackwell


DOI: 10.1002/ana.24362


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Funder referenceFunder name
Fight for Sight (UK)
UK National Institute for Health Research (NIHR) Biomedical Research Centre for Ageing and Age-Related Diseases
UK NIHR as part of the Rare Diseases Translational Research Collaboration
UK NHS Specialized Services and Newcastle upon Tyne Hospitals NHS Foundation Trust
096919Z/11/ZWellcome Trust
074454/Z/04/ZWellcome Trust
G0601943Medical Research Council
G0800674Medical Research Council
096919/Z/11/zWellcome Trust