Browse by author
Lookup NU author(s): Dr Cara Tomas, Dr Ilse Pienaar, Vicki Strassheim, Professor Fai NgORCiD, Emerita Professor Julia Newton, Professor Francois van der Westhuizen, Dr Joanna Elson
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2019, The Author(s). 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.
Author(s): Venter M, Tomas C, Pienaar IS, Strassheim V, Erasmus E, Ng W-F, Howell N, Newton JL, Van der Westhuizen FH, Elson JL
Publication type: Article
Publication status: Published
Journal: Scientific Reports
Year: 2019
Volume: 9
Issue: 1
Online publication date: 27/02/2019
Acceptance date: 11/01/2019
Date deposited: 11/03/2019
ISSN (electronic): 2045-2322
Publisher: Nature Publishing Group
URL: https://doi.org/10.1038/s41598-019-39060-1
DOI: 10.1038/s41598-019-39060-1
PubMed id: 30814539
Altmetrics provided by Altmetric