MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants

Venter, Marianne, Tomas, Cara, Pienaar, Ilse S, Strassheim, Victoria, Erasmus, Elardus, Ng, Wan-Fai, Howell, Neil, Newton, Julia L, van der Westhuizen, Francois H and Elson, Joanna L (2019) MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants. Scientific Reports. ISSN 2045-2322 (Accepted)

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Abstract

Myalgic 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.

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Neuroscience
Depositing User: Ilse Pienaar
Date Deposited: 15 Jan 2019 14:38
Last Modified: 15 Jan 2019 14:39
URI: http://sro.sussex.ac.uk/id/eprint/81281

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