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Scientists have developed a blood test that analyses epigenetic changes in immune cells. They say it could be used to diagnose chronic fatigue syndrome. Credit: TEK Image\/Science Photo Library<\/p>\n
Researchers who are seeking ways to diagnose a mysterious illness called chronic fatigue syndrome may have a new weapon in their armoury. In a study published in the Journal of Translational Medicine on 8 October1<\/a>, scientists in the United Kingdom say they have found a way to distinguish epigenetic changes in the cells of people who have the condition, which is also known as myalgic encephalomyelitis<\/a>.<\/p>\n A debilitating long-term illness, ME\/CFS affects between 17 and 24 million people worldwide2<\/a>, but these numbers are crude estimates because clinicians have long lacked reliable diagnostic tools for this poorly understood condition.<\/p>\n The results of the study show that the epigenetic test could be developed into a clinical biomarker for ME\/CFS, said Dmitry Pshezhetskiy, a researcher\u2013clinician at the University of East Anglia in Norwich, UK, and lead author of the study, in a press release that was published alongside the paper. \u201cWith no definitive tests, many patients have gone undiagnosed or misdiagnosed for years.\u201d He added that the discovery \u201coffers the potential for a simple, accurate blood test to help confirm a diagnosis, which could lead to earlier support and more effective management\u201d.<\/p>\n Others in the field have cautiously welcomed the findings, but they point out that the study was small and that more work is needed to convert the technique into a clinical tool.<\/p>\n A reboot for chronic fatigue syndrome research<\/p>\n <\/a><\/p>\n Epigenetic markers<\/p>\n The underlying mechanisms of ME\/CFS remain unclear<\/a>, but evidence is building that one of the hallmarks of ME\/CFS is immune dysregulation. The authors had already developed an assay that screens for epigenetic changes in immune cells in the blood, which they used to identify epigenetic signatures for a range of conditions including rheumatoid arthritis3<\/a>. The assay analyses the way DNA is folded inside peripheral blood mononuclear cells, a key part of the immune system.<\/p>\n The researchers tested whether the same assay could be used to screen for similar epigenetic changes to immune cells in the blood of 47 individuals with severe ME\/CFS, comparing the results with those from 61 healthy participants. The data showed that the assay achieved a 96% accuracy in diagnosing people with ME\/CFS.<\/p>\n The authors found a network of genomic changes that were strongly involved in immune and inflammatory signalling. The authors say that this is consistent with an immune-dysregulation signal in ME\/CFS, and underscores the strength of using these changes as biomarkers of the condition. And they say the changes they identified can be connected to specific regions of non-coding DNA, which can help to unpick the role of genetics in the condition and lead to a better mechanistic understanding.<\/p>\n \u201cI think it\u2019s really cool they brought this method to the field,\u201d says Katie Glass, a molecular biologist who studies ME\/CFS at Cornell University in Ithaca, New York. \u201cAs far as it being a biomarker, my enthusiasm would be pretty tempered because the cohort is very small and they looked at only very severe patients.\u201d<\/p>\n![\"\"](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/10\/d41586-025-03299-8_16164570.jpg\"\/)
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