Researchers conducted a retrospective analysis of whole blood samples to evaluate whether three-dimensional chromosome conformation profiling could identify Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) – characterized by fatigue, post-exertional symptom exacerbation, cognitive impairment, and autonomic dysfunction – currently lacks a validated laboratory diagnostic test. In this study, published in the Journal of Translational Medicine, blood samples from 47 patients with severe disease and 61 age-matched controls were assessed using a whole-genome platform designed to detect chromosome conformations.
The researchers identified a panel of 200 chromosome conformation markers and developed a classification model, referred to as the Episwitch Chronic Fatigue Syndrome test. The study reported that the dataset was randomly partitioned into training and test sets, and that a separate group of 24 ME/CFS samples and 45 control samples was held out as an independent validation cohort. Reported performance included 92 percent sensitivity, 98 percent specificity, and overall accuracy of 96 percent.
Genomic mapping linked the identified markers to nearby loci associated with cytokine signaling, innate immune pathways, and JAK–STAT transcriptional programs. Interleukin-2 was a central pathway component, and hierarchical clustering using Interleukin-2-associated markers showed subgrouping among patients. These findings aligned with immune-related pathways identified in previous ME/CFS studies. Researchers compared ME/CFS pathway networks with those associated with rituximab and glatiramer acetate and identified overlapping markers.
While the analysis did not include treatment evaluations, the results suggest that epigenetic profiles in ME/CFS may inform therapeutic stratification and open the door for personalized medicine for patients with the syndrome.
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