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 →
Spotted an error in this entry? Report it →