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 →
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