dc.contributor.author | Venter, Marianne | |
dc.contributor.author | Erasmus, Elardus | |
dc.contributor.author | Van der Westhuizen, Francois H. | |
dc.contributor.author | Elson, Joanna L. | |
dc.contributor.author | Tomas, Cara | |
dc.date.accessioned | 2019-03-25T06:06:53Z | |
dc.date.available | 2019-03-25T06:06:53Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Venter, M. et al. 2019. MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants. Scientific reports, 9(1): Article no 2914. [https://doi.org/10.1038/s41598-019-39060-1] | en_US |
dc.identifier.issn | 2045-2322 (Online) | |
dc.identifier.uri | http://hdl.handle.net/10394/32009 | |
dc.identifier.uri | https://www.nature.com/articles/s41598-019-39060-1 | |
dc.identifier.uri | https://doi.org/10.1038/s41598-019-39060-1 | |
dc.description.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 | en_US |
dc.language.iso | en | en_US |
dc.publisher | Nature | en_US |
dc.subject | Genetic association study | en_US |
dc.subject | Rare variants | en_US |
dc.title | MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants | en_US |
dc.type | Article | en_US |
dc.contributor.researchID | 20196946 - Venter, Marianne | |
dc.contributor.researchID | 10213503 - Van der Westhuizen, Francois Hendrikus | |
dc.contributor.researchID | 24952338 - Elson, Joanna L. | |
dc.contributor.researchID | 10066136 - Erasmus, Elardus | |