title: Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: Elizna M
authors.initials: EM
authors.lastname: Schoeman
authors.affiliation: Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: Francois H
authors.initials: FH
authors.lastname: Van Der Westhuizen
authors.affiliation: Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: Elardus
authors.initials: E
authors.lastname: Erasmus
authors.affiliation: Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
authors.forename: Etresia
authors.initials: E
authors.lastname: van Dyk
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
authors.forename: Charlotte V Y
authors.initials: CV
authors.lastname: Knowles
authors.affiliation: Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.|Department of Biology, College of Science, University of Basrah, Basrah, Iraq.
authors.forename: Shereen
authors.initials: S
authors.lastname: Al-Ali
authors.affiliation: Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.|Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
authors.forename: Wan-Fai
authors.initials: WF
authors.lastname: Ng
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.affiliation: Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.|Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
authors.forename: Julia L
authors.initials: JL
authors.lastname: Newton
authors.affiliation: Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Joanna.elson@ncl.ac.uk.|Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK. Joanna.elson@ncl.ac.uk.
authors.forename: Joanna L
authors.initials: JL
authors.lastname: Elson
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D015673:Fatigue Syndrome, Chronic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D004272:DNA, Mitochondrial
keywords: Chronic fatigue syndrome; Pathogenicity; mtDNA mutations