Boles, Richard G, Zaki, Essam A, Kerr, Jonathan R et al. · Mitochondrion · 2015 · DOI
This study found that two specific variations in mitochondrial DNA (the energy-producing structures in our cells) appear more frequently in people with ME/CFS and several other conditions that cause fatigue, pain, or dysfunction. The researchers looked at people with a particular genetic background and found that having one or both of these DNA variations was linked to increased risk of developing these conditions. This suggests these genetic variations may be a shared risk factor across multiple illnesses.
This research provides preliminary evidence that specific mitochondrial DNA variations may predispose individuals to ME/CFS, offering a potential genetic explanation for why the condition clusters with other 'functional syndromes.' Understanding shared genetic risk factors could help identify at-risk individuals and guide development of targeted treatments focused on mitochondrial and autonomic dysfunction.
This study demonstrates association, not causation—having these polymorphisms does not necessarily cause ME/CFS. The findings are limited to individuals with a specific mtDNA haplogroup (H) and may not apply to other populations. Additionally, the study does not explain the mechanism by which these polymorphisms increase disease risk or determine which individuals carrying these variants will actually develop illness.
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
Boles, Richard G, Zaki, Essam A, Kerr, Jonathan R, Das, Kingshuk, Biswas, Sawona, & Gardner, Ann (2015). Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?. Mitochondrion. https://doi.org/10.1016/j.mito.2015.04.005
BibTeX
@article{mecfsatlas-boles-2015-increased-prevalence,
author = {Boles, Richard G and Zaki, Essam A and Kerr, Jonathan R and Das, Kingshuk and Biswas, Sawona and Gardner, Ann},
title = {Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?},
journal = {Mitochondrion},
year = {2015},
doi = {10.1016/j.mito.2015.04.005},
note = {PubMed: 25934187},
url = {https://www.mecfsatlas.com/evidence/boles-2015-increased-prevalence},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-25. https://www.mecfsatlas.com/evidence/boles-2015-increased-prevalence
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