Maltese, P E, Venturini, L, Poplavskaya, E et al. · Genetics and molecular research : GMR · 2016 · DOI
This study looked at three genes that help muscles produce energy during physical activity. The researchers compared these genes in 17 patients with ME/CFS and 50 healthy people to see if differences in these genes might explain why ME/CFS patients experience severe fatigue after exertion. The study found no significant genetic differences between the two groups, suggesting these particular genes are not responsible for causing ME/CFS.
Understanding the genetic basis of ME/CFS is critical for identifying why patients develop post-exertional malaise and exercise intolerance. This study contributes to the field by systematically excluding three plausible candidate genes involved in muscle energy metabolism, helping researchers refocus efforts on other genetic and non-genetic mechanisms underlying the disease.
This study does not prove that genetic factors are unimportant in ME/CFS overall—it only excludes these three specific genes. The negative findings do not rule out mutations in other metabolic genes or non-genetic causes of energy production abnormalities. A small sample size (17 patients) limits the statistical power to detect true associations.
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
Maltese, P E, Venturini, L, Poplavskaya, E, Bertelli, M, Cecchin, S, Granato, M, et al. (2016). Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.. Genetics and molecular research : GMR. https://doi.org/10.4238/gmr.15038717
BibTeX
@article{mecfsatlas-maltese-2016-genetic-evaluation,
author = {Maltese, P E and Venturini, L and Poplavskaya, E and Bertelli, M and Cecchin, S and Granato, M and Nikulina, S Y and Salmina, A and Aksyutina, N and Capelli, E and Ricevuti, G and Lorusso, L},
title = {Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.},
journal = {Genetics and molecular research : GMR},
year = {2016},
doi = {10.4238/gmr.15038717},
note = {PubMed: 27525900},
url = {https://www.mecfsatlas.com/evidence/maltese-2016-genetic-evaluation},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-29. https://www.mecfsatlas.com/evidence/maltese-2016-genetic-evaluation
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