Schoeman, Elizna M, Van Der Westhuizen, Francois H, Erasmus, Elardus et al. · BMC medical genetics · 2017 · DOI
This study examined the DNA inside the energy-producing parts of cells (mitochondria) in 93 ME/CFS patients from the UK and South Africa. The researchers looked for specific mutations that are known to cause mitochondrial disease. They found that these known harmful mutations were not present in the ME/CFS patients studied, suggesting that ME/CFS is not caused by these well-established mitochondrial mutations.
This study addresses an important question about whether ME/CFS might be caused by mitochondrial DNA defects—a hypothesis that had gained attention given the prevalence of fatigue in mitochondrial disease. The findings clarify that while mitochondrial dysfunction may play a role in ME/CFS, the known genetic mutations that cause primary mitochondrial disease are not present in ME/CFS patients, helping distinguish these conditions.
This study does not prove that mitochondria are not involved in ME/CFS—only that known, pathogenic mtDNA mutations are not common. It does not examine nuclear genes involved in mitochondrial function or common DNA variations that might increase susceptibility. The negative findings do not explain what actually causes ME/CFS or rule out mitochondrial dysfunction from other genetic or acquired causes.
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
Schoeman, Elizna M, Van Der Westhuizen, Francois H, Erasmus, Elardus, van Dyk, Etresia, Knowles, Charlotte V Y, Al-Ali, Shereen, et al. (2017). Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.. BMC medical genetics. https://doi.org/10.1186/s12881-017-0387-6
BibTeX
@article{mecfsatlas-schoeman-2017-clinically-proven,
author = {Schoeman, Elizna M and Van Der Westhuizen, Francois H and Erasmus, Elardus and van Dyk, Etresia and Knowles, Charlotte V Y and Al-Ali, Shereen and Ng, Wan-Fai and Taylor, Robert W and Newton, Julia L and Elson, Joanna L},
title = {Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.},
journal = {BMC medical genetics},
year = {2017},
doi = {10.1186/s12881-017-0387-6},
note = {PubMed: 28302057},
url = {https://www.mecfsatlas.com/evidence/schoeman-2017-clinically-proven},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-29. https://www.mecfsatlas.com/evidence/schoeman-2017-clinically-proven
Contribute
Private, reviewed by a human. Not a public comment thread.