Venter, Marianne, Tomas, Cara, Pienaar, Ilse S et al. · Scientific reports · 2019 · DOI
This study looked at mitochondrial DNA (the genetic material in the energy-producing parts of our cells) in people with ME/CFS to see if differences in this DNA might help explain the condition. Researchers compared DNA samples from ME/CFS patients in the UK and South Africa to look for variations. Interestingly, they found that ME/CFS patients were less likely to have certain common genetic variations that most people carry, but they did not find any confirmed disease-causing mutations.
Mitochondrial dysfunction is increasingly suspected as a contributor to ME/CFS given the severe fatigue characteristic of mitochondrial diseases. This study provides evidence that mitochondrial DNA variation patterns differ in ME/CFS patients, offering a new avenue for understanding the biological basis of the condition and potentially identifying patients who might benefit from mitochondria-targeting interventions.
This study does not prove that mitochondrial DNA variations cause ME/CFS, nor does it identify specific genetic mutations responsible for the condition. The association between reduced mildly deleterious variants and ME/CFS does not establish causation, and the biological mechanism explaining this population-level difference remains unclear. The findings require replication in larger populations and functional studies to determine clinical significance.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Venter, Marianne, Tomas, Cara, Pienaar, Ilse S, Strassheim, Victoria, Erasmus, Elardus, Ng, Wan-Fai, et al. (2019). MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.. Scientific reports. https://doi.org/10.1038/s41598-019-39060-1
BibTeX
@article{mecfsatlas-venter-2019-mtdna-population,
author = {Venter, Marianne and Tomas, Cara and Pienaar, Ilse S and Strassheim, Victoria and Erasmus, Elardus and Ng, Wan-Fai and Howell, Neil and Newton, Julia L and Van der Westhuizen, Francois H and Elson, Joanna L},
title = {MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.},
journal = {Scientific reports},
year = {2019},
doi = {10.1038/s41598-019-39060-1},
note = {PubMed: 30814539},
url = {https://www.mecfsatlas.com/evidence/venter-2019-mtdna-population},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-26. https://www.mecfsatlas.com/evidence/venter-2019-mtdna-population
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