Tang-Siegel, Gaoyan G, Maughan, David W, Frownfelter, Milah B et al. · Case reports in genetics · 2024 · DOI
This study describes one patient with ME/CFS whose symptoms began after a severe viral infection (Epstein-Barr virus, which causes mononucleosis) 24 years ago. Researchers found that her cells had genetic mutations affecting the mitochondria—the 'power plants' that produce energy for our bodies—which may explain her extreme fatigue and difficulty recovering from physical activity. The study also found abnormal mitochondria circulating in her blood, suggesting that energy production problems may be contributing to her ME/CFS symptoms.
This study provides genetic and cellular evidence supporting the hypothesis that mitochondrial dysfunction is involved in at least some ME/CFS cases, particularly following viral infections. Finding concrete biological markers like defective mitochondrial DNA variants and abnormal circulating mitochondria helps validate ME/CFS as a physical disease rather than a psychological condition, potentially opening new diagnostic and therapeutic avenues.
This single case report does not prove that these specific mitochondrial mutations cause ME/CFS or that they are present in most ME/CFS patients. It cannot establish whether these mutations directly caused the disease, were triggered by the viral infection, or were pre-existing vulnerabilities. The findings cannot be generalized beyond this individual patient without larger population studies.
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 →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Tang-Siegel, Gaoyan G, Maughan, David W, Frownfelter, Milah B, & Light, Alan R (2024). Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus.. Case reports in genetics. https://doi.org/10.1155/2024/6475425
BibTeX
@article{mecfsatlas-tang-siegel-2024-mitochondrial-dna,
author = {Tang-Siegel, Gaoyan G and Maughan, David W and Frownfelter, Milah B and Light, Alan R},
title = {Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus.},
journal = {Case reports in genetics},
year = {2024},
doi = {10.1155/2024/6475425},
note = {PubMed: 38756740},
url = {https://www.mecfsatlas.com/evidence/tang-siegel-2024-mitochondrial-dna},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-30. https://www.mecfsatlas.com/evidence/tang-siegel-2024-mitochondrial-dna
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