Arcos-Burgos, Mauricio, Arcos-Holzinger, Mauricio, Mastronardi, Claudio et al. · Diagnostics (Basel, Switzerland) · 2025 · DOI
Researchers compared DNA samples from 77 Australian ME/CFS patients with genetic databases to identify differences that might explain the disease. They found that certain genes involved in brain development—particularly those encoding special protein structures called Olduvai domains—were associated with ME/CFS. When they checked these findings in a separate U.S. patient group, they confirmed several of the same genetic associations, suggesting these genes may play a role in ME/CFS.
This is among the first studies to identify specific genetic variants consistently associated with ME/CFS across independent patient populations, providing potential molecular leads for understanding disease mechanisms. The convergence on neurodevelopmental pathways connects ME/CFS to biological processes relevant to brain function, which may guide future diagnostic and therapeutic approaches.
This study does not prove that these genetic variants cause ME/CFS—it shows associations only. The findings do not establish whether variants are sufficient to cause disease, necessary for disease development, or simply markers of underlying biological pathways. Functional studies are needed to determine how these genes actually contribute to ME/CFS pathology.
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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