s41598-019-39060-1.pdf (1.78 MB)
MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
Version 2 2023-06-12, 08:57
Version 1 2023-06-09, 16:31
journal contribution
posted on 2023-06-12, 08:57 authored by Marianne Venter, Cara Tomas, Ilse Pienaar, Victoria Strassheim, Elardus Erasmus, Wan-Fai Ng, Neil Howell, Julia L Newton, Francois H van der Westhuizen, Joanna L ElsonMyalgic Encephalomyelitis (ME), also known as Chronic Fatigue Syndrome (CFS) is a debilitating condition. There is growing interest in a possible etiologic or pathogenic role of mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation in ME/CFS. Supporting such a link, fatigue is common and often severe in patients with mitochondrial disease. We investigate the role of mtDNA variation in ME/CFS. No proven pathogenic mtDNA mutations were found. We then investigated population variation. Two cohorts were analysed, one from the UK (n = 89 moderately affected; 29 severely affected) and the other from South Africa (n = 143 moderately affected). For both cohorts, ME/CFS patients had an excess of individuals without a mildly deleterious population variant. The differences in population variation might reflect a mechanism important to the pathophysiology of ME/CFS.
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Publication status
- Published
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- Published version
Journal
Scientific ReportsISSN
2045-2322Publisher
Nature ResearchExternal DOI
Issue
2914Volume
9Page range
1-8Department affiliated with
- BSMS Neuroscience Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2019-01-15First Open Access (FOA) Date
2019-03-04First Compliant Deposit (FCD) Date
2019-01-14Usage metrics
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