Biomarker Studies Summary

Validated and Proposed Biomarkers for ME/CFS
Biomarker Measurement Finding Clinical Utility Validation Status
2-Day CPET VO2max Day 1 vs Day 2 25% reduction Day 2 in ME/CFS (Lim et al. 2020) Objective PEM documentation; disability assessment VALIDATED (replicated)
WASF3 protein Muscle biopsy immunoblot Elevated in ME/CFS; inverse correlation with Complex IV (Wang et al. 2023) Research tool; potential treatment target PRELIMINARY (n=14; needs replication)
NK cell cytotoxicity Flow cytometry; cytotoxic assay Reduced across multiple studies (Bulbule et al. 2024) Immune dysfunction marker MODERATE (consistent but variable)
Viral serology PCR, immunostaining Enterovirus in 82% stomach biopsies (Chia 2005); multiple viral associations (Hwang et al. 2023) Subset identification (viral-onset) MODERATE (specialized techniques)
Tryptophan-kynurenine Plasma metabolomics IDO metabolic trap (Phair, Davis, and Kashi 2019) Potential treatment stratification HYPOTHESIS (needs validation)

References

Bulbule, Sarojini, Carl Gunnar Gottschalk, Molly E. Drosen, Daniel Peterson, Leggy A. Arnold, and Avik Roy. 2024. “Dysregulation of Tetrahydrobiopterin Metabolism in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome by Pentose Phosphate Pathway.” Journal of Central Nervous System Disease 16: 11795735241271675. https://doi.org/10.1177/11795735241271675.
Chia, John K. S. 2005. “The Role of Enterovirus in Chronic Fatigue Syndrome.” Journal of Clinical Pathology 58 (11): 1126–32. https://doi.org/10.1136/jcp.2004.020255.
Hwang, Jae-Hyun, Jae-Seung Lee, Hyun-Mi Oh, et al. 2023. “Evaluation of Viral Infection as an Etiology of ME/CFS: A Systematic Review and Meta-Analysis.” Journal of Translational Medicine 21 (1): 763. https://doi.org/10.1186/s12967-023-04635-0.
Lim, Eun-Jin, Eun-Bum Kang, Eun-Su Jang, and Chang-Gue Son. 2020. “Systematic Review of the Two-Day Cardiopulmonary Exercise Test as an Objective Assessment Tool for Post-Exertional Malaise in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.” Journal of Clinical Medicine 9 (12): 4040. https://doi.org/10.3390/jcm9124040.
Phair, Robert D., Ronald W. Davis, and Alex A. Kashi. 2019. “The IDO Metabolic Trap Hypothesis for the Etiology of ME/CFS.” Diagnostics 9 (3): 82. https://doi.org/10.3390/diagnostics9030082.
Wang, Ping-yuan, Jin Ma, Young-Chae Kim, et al. 2023. WASF3 Disrupts Mitochondrial Respiration and May Mediate Exercise Intolerance in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.” Proceedings of the National Academy of Sciences 120 (34): e2302738120. https://doi.org/10.1073/pnas.2302738120.