ME/CFS Gene Study

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Saliva DNA collection tube with blue preservation fluid in a separate tube.
Saliva DNA kit for genetic testing

The ME/CFS Gene Study or ME/CFS Genetic Database Study is a crowdsourced study looking for patient genetic data of at least 1,000 patients, with a target of 10,000, from commercially available gene datasets companies or doctor ordered gene studies of any type to be uploaded to the Institute for Neuro Immune Medicine at Nova Southeastern University. This study will help researchers understand which gene mutations can be targeted for therapies for ME/CFS.[1][2]

Funding[edit | edit source]

The ME/CFS Gene Study is crowd funded. Those who contribute gene information are not paid. Genes are currently only accepted from commercial testing done by 23andMe or the Ancestry DNA service, which participants must pay for unless they already have the data.[1]

Results[edit | edit source]

Main pathways showing genetic factors common in ME/CFS
Source: Perez et al 2019.[3]

The ME/CFS Gene Study is still recruiting participants. However, early analysis of 450 patient gene datasets revealed "a high prevalence of a heritable defect in the methylfolate (MTHFR) gene in ME/CFS."[2]

The study is expected to run for at least 20 years, and to result in multiple research publications.

Pilot study[edit | edit source]

The May 2019 pilot study, which used the Fukuda criteria for chronic fatigue syndrome only, looked for the SNPs that were more common in CFS patients than in healthy people, predicted which 50 of these were most likely to be harmful, and reported on the 10 genes found in at least 70% of those with CFS.[3]

Three main clusters of pathways were found to share over 30% of genes common in ME/CFS patients:

Immune-related genes[edit | edit source]

Cytokine Signaling in Immune System pathway; includes other immune-related pathways such as interferon signaling, autoimmune responses, and T-cell receptor signaling

Hormone-related genes[edit | edit source]

Nuclear-Receptors Meta-Pathway including hormone related pathways

Metabolism-related genes[edit | edit source]

Labelled as pathways in cancer but showing many metabolic processes, signaling and enzymes that are all involved in the regulation of glycogen, sugar and lipid metabolism[3]

The resulting 10 gene found were CYP2D6, PRRT4, PRSS56, C14orf37, ANKDD1B, GPBAR1, LHB, ADAMTS19, VARS2, and CPLX2.[3]

Notable studies[edit | edit source]

  • 2019, Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study[3](Full text)

Criticism[edit | edit source]

Investigators[edit | edit source]

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]

T cell A type of white blood cell which is mostly produced or matured in the thymus gland (hence T-cell) and is involved in the adaptive immune response on a cellular level. Also known as a T lymphocyte. (Learn more:

enzyme a substance produced by a living organism which acts as a catalyst to bring about a specific biochemical reaction.

myalgic encephalomyelitis (M.E.) - A disease often marked by neurological symptoms, but fatigue is sometimes a symptom as well. Some diagnostic criteria distinguish it from chronic fatigue syndrome, while other diagnostic criteria consider it to be a synonym for chronic fatigue syndrome. A defining characteristic of ME is post-exertional malaise (PEM), or post-exertional neuroimmune exhaustion (PENE), which is a notable exacerbation of symptoms brought on by small exertions. PEM can last for days or weeks. Symptoms can include cognitive impairments, muscle pain (myalgia), trouble remaining upright (orthostatic intolerance), sleep abnormalities, and gastro-intestinal impairments, among others. An estimated 25% of those suffering from ME are housebound or bedbound. The World Health Organization (WHO) classifies ME as a neurological disease.

The information provided at this site is not intended to diagnose or treat any illness.
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history.