Genetic Studies
Quick Summary
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Extended List of Studies (by year)
2015-2018
[HIGHLIGHT] CD24 Expression and B Cell Maturation Shows a Novel Link with Energy Metabolism: Potential Implications for Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.
Nimmo, S. ME Action. 2018
CD24 expression on pro-B cells plays a role in B cell selection and development in the bone marrow. We previously detected higher CD24 expression and frequency within IgD+ naïve and memory B cells in patients with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) compared with age-matched healthy controls (HC). Here, we investigated the relationship between CD24 expression and B cell maturation.
extras from ME Action article
The study is trying to reveal a potential link between previous observations of altered metabolism and immune dysfunction in people with ME.
The dynamic nature of B cells is a good model to observe changes in energy demand, in which CD24 seems to play an important role,” said Fane Mensah.
“More and more papers are showing that altered cell metabolism alters the function of the cell and the altered metabolism of immune cells would be no exception” said Armstrong.
“The study is important because it potentially forms a connection between the immune system and metabolism. The CD24 marker increase shows a strong relationship to energy metabolism.”
“Abnormalities in energy pathway usage has already been described as an important feature in understanding the pathophysiology and etiology in ME/CFS. The metabolic anomalies described in sera from patients with ME/CFS have been proposed to be regulated by increased AMPK phosphorylation. This would thus appear to be confirmed by the finding of increased expression of CD24 on B cells from ME/CFS patients and its relationship to AMPK and surrogate measures of glycolysis, namely glucose consumption and lactate production as observed in this study.”
[HIGHLIGHT] Epigenetic modifications and glucocorticoid sensitivity in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). [Full Text] [PDF]
de Vega WC, Herrera S, Vernon SD, McGowan PO. BMC Med Genomics. 2017
Our results indicate DNA methylation modifications in cellular metabolism in ME/CFS despite a heterogeneous patient population, implicating these processes in immune and HPA axis dysfunction in ME/CFS. Modifications to epigenetic loci associated with differences in glucocorticoid sensitivity may be important as biomarkers for future clinical testing. Overall, these findings align with recent ME/CFS work that point towards impairment in cellular energy production in this patient population.
Whole blood gene expression in adolescent chronic fatigue syndrome: an exploratory cross-sectional study suggesting altered B cell differentiation and survival. [PDF]
Nguyen CB, et al. J Transl Med. 2017
[HIGHLIGHT] Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome. [Full Text] [PDF]
*Billing-Ross P, Germain A, Ye K, Keinan A, Gu Z, Hanson MR. J Transl Med. 2016
Analysis of mitochondrial genomes in ME/CFS cases indicates that individuals of a certain haplogroup or carrying specific SNPs are more likely to exhibit certain neurological, inflammatory, and/or gastrointestinal symptoms.
[HIGHLIGHT] Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome. [Full Text] [PDF]
Schlauch KA, Khaiboullina SF, De Meirleir KL, Rawat S, Petereit J, Rizvanov AA, Blatt N, Mijatovic T, Kulick D, Palotás A, Lombardi VC. Transl Psychiatry. 2016
The authors used a DNA single-nucleotide polymorphism (SNP) chip representing over 906,600 known SNPs to analyze DNA from ME/CFS subjects and healthy controls. Twelve SNPs were identified in the coding region of their respective gene.
2010-2014
[HIGHLIGHT] DNA methylation modifications associated with chronic fatigue syndrome. [PDF]
de Vega WC, et al. PLoS One. 2014.
We found an increased abundance of differentially methylated genes related to the immune response, cellular metabolism, and kinase activity. Genes associated with immune cell regulation, the largest coordinated enrichment of differentially methylated pathways, showed hypomethylation within promoters and other gene regulatory elements in CFS. These data are consistent with evidence of multisystem dysregulation in CFS and implicate the involvement of DNA modifications in CFS pathology.
Use of single-nucleotide polymorphisms (SNPs) to distinguish gene expression subtypes of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME).
Shimosako N, et al. J Clin Pathol. 2014.