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Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

Lookup NU author(s): Charlotte Hemingbrough, Professor Fai NgORCiD, Professor Robert Taylor, Emerita Professor Julia Newton, Dr Joanna Elson



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


© 2017 The Author(s).Background: Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (mtDNA) variation in CFS. It is now known that fatigue is common and often severe in patients with mitochondrial disease irrespective of their age, gender or mtDNA genotype. More recently, it has been suggested that some CFS patients harbour clinically proven mtDNA mutations. Methods: MtDNA sequencing of 93 CFS patients from the United Kingdom (UK) and South Africa (RSA) was performed using an Ion Torrent Personal Genome Machine. The sequence data was examined for any evidence of clinically proven mutations, currently; more than 200 clinically proven mtDNA mutations point mutations have been identified. Results: We report the complete mtDNA sequence of 93 CFS patients from the UK and RSA, without finding evidence of clinically proven mtDNA mutations. This finding demonstrates that clinically proven mtDNA mutations are not a common element in the aetiology of disease in CFS patients. That is patients having a clinically proven mtDNA mutation and subsequently being misdiagnosed with CFS are likely to be rare. Conclusion: The work supports the assertion that CFS should not be considered to fall within the spectrum of mtDNA disease. However, the current study cannot exclude a role for nuclear genes with a mitochondrial function, nor a role of mtDNA population variants in susceptibility to disease. This study highlights the need for more to be done to understand the pathophysiology of CFS.

Publication metadata

Author(s): Schoeman EM, Van Der Westhuizen FH, Erasmus E, van Dyk E, Knowles CVY, Al-Ali S, Ng W-F, Taylor RW, Newton JL, Elson JL

Publication type: Article

Publication status: Published

Journal: BMC Medical Genetics

Year: 2017

Volume: 18

Online publication date: 16/03/2017

Acceptance date: 02/03/2017

Date deposited: 29/03/2018

ISSN (electronic): 1471-2350

Publisher: BioMed Central Ltd.


DOI: 10.1186/s12881-017-0387-6

PubMed id: 28302057


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Funder referenceFunder name
Action for ME RES/0200/7841 (to JLE).
Centre for Human Metabolomics, North-West University The Wellcome trust by means of the Institutional Strategic Support Fund
RWT is supported by a Wellcome Trust Strategic Award (096919/Z/11/Z),
the MRC Centre for Neuromuscular Diseases (G0601943),
UK NHS Highly Specialised “Rare Mitochondrial Disorders of Adults and Children” Service in Newcastle upon Tyne.
the Lily Foundation