Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation, 2025, Birch, Younger et al

hotblack said:
then wouldn’t it be helpful to have information from people with rare variants which cause larger or more clear susceptibilities
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Absolutely, I think everyone is agreed on that. But if rare variants are really rare it is hard to get statistical data on relative prevalence. i think people are just arguing about how much weight one can give to rare variants that look a bit like what you were expecting to find when we cannoot be sure they are actually conferring risk rather than showing up by chance.
 
Jonathan Edwards said:
i think people are just arguing about how much weight one can give to rare variants that look a bit like what you were expecting to find when we cannoot be sure they are actually conferring risk rather than showing up by chance
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Ah! Gotya. Thanks for clarifying.
 
Last edited:
LizWorthey said:
Ok pulled together a starter set of both the studies and a few reviews of studies
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B

Thread 'Altered Fatty Acid Oxidation in Lymphocyte Populations of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, 2023, Maya et al'

https://www.mdpi.com/1422-0067/24/3/2010


Abstract
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a disabling multisystem illness in which individuals are plagued with fatigue, inflammatory symptoms, cognitive dysfunction, and the hallmark symptom, post-exertional malaise. While the cause of this disease remains unknown, there is evidence of a potential infectious component that, along with patient symptoms and common onsets of the disease, implicates immune system dysfunction.

To further our understanding of the state of ME/CFS lymphocytes, we...
  • Braganca
  • fatty acid metabolism maureen hanson metabolism natural killer cells nk cells seahorse t cells t-cells
  • Replies: 15
  • Forum: ME/CFS research
  • Like
pooriepoor91

Thread 'AI-driven multi-omics modeling of Myalgic Encephalomyelitis / Chronic Fatigue Syndrome, 2025, Xiong et al.'

Now published - see post #20
********************************
https://www.biorxiv.org/content/10.1101/2024.06.24.600378v1

BioMapAI: Artificial Intelligence Multi-Omics Framework Modeling of Myalgic Encephalomyelitis / Chronic Fatigue Syndrome
Ruoyun Xiong, Elizabeth Fleming, Ryan Caldwell, Suzanne D. Vernon, Lina...
  • pooriepoor91
  • artificial intelligence bile acid biomapai gamma-delta t cells interferon interferon gamma lipids mait cells multi-omics unutmaz vernon
  • Replies: 43
  • Forum: ME/CFS research
  • Like
SNT Gatchaman

Thread 'Heightened innate immunity may trigger chronic inflammation, fatigue and [PEM]…, 2025, Che, Hornig, Bateman, Klimas, Komaroff, Lipkin+'

Link to published paper here


Preprint:

Heightened innate immunity may trigger chronic inflammation, fatigue and post-exertional malaise in ME/CFS
Xiaoyu Che; Amit Ranjan; Cheng Guo; Keming Zhang; Rochelle Goldsmith; Susan Levine; Kegan J. Moneghetti; Yali Zhai; Liner Ge; NISCHAY MISHRA; Mady Hornig; Lucinda Bateman; Nancy G. Klimas; Jose Gilberto Montoya; Daniel L. Peterson; Sabra L. Klein; Oliver Fiehn; Anthony L. Komaroff; W. Ian Lipkin

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by unexplained fatigue, post-exertional malaise...
  • SNT Gatchaman
  • amino acids calcium complement copper extracellular matrix fatty acid metabolism fatty acid oxidation gdf15 gut microbiome herv innate immune system integrins interferon gamma kynurenine lipid metabolism lipids metabolism pem serotonin tryptophan vegf
  • Replies: 48
  • Forum: ME/CFS research
  • Like
Andy

Preprint Thread 'Initial findings from the DecodeME genome-wide association study of myalgic encephalomyelitis/chronic fatigue syndrome, 2025, DecodeMe Collaboration'

[Additional line breaks added]

ABSTRACT

Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, poorly understood disease that has no effective treatments, and has long been underserved by scientific research and national health systems. It is a sex-biased disease towards females that is often triggered by an infection, and its hallmark symptom is post-exertional malaise. People with ME/CFS often report their symptoms being disbelieved. The biological mechanisms causing ME/CFS remain unclear.

We recruited 21,620 ME/CFS cases and performed genome wide association...
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SNT Gatchaman

Thread 'Heightened innate immunity may trigger chronic inflammation, fatigue and [PEM]…, 2025, Che, Hornig, Bateman, Klimas, Komaroff, Lipkin+'

Link to published paper here


Preprint:

Heightened innate immunity may trigger chronic inflammation, fatigue and post-exertional malaise in ME/CFS
Xiaoyu Che; Amit Ranjan; Cheng Guo; Keming Zhang; Rochelle Goldsmith; Susan Levine; Kegan J. Moneghetti; Yali Zhai; Liner Ge; NISCHAY MISHRA; Mady Hornig; Lucinda Bateman; Nancy G. Klimas; Jose Gilberto Montoya; Daniel L. Peterson; Sabra L. Klein; Oliver Fiehn; Anthony L. Komaroff; W. Ian Lipkin

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by unexplained fatigue, post-exertional malaise...
  • SNT Gatchaman
  • amino acids calcium complement copper extracellular matrix fatty acid metabolism fatty acid oxidation gdf15 gut microbiome herv innate immune system integrins interferon gamma kynurenine lipid metabolism lipids metabolism pem serotonin tryptophan vegf
  • Replies: 48
  • Forum: ME/CFS research
  • Like
 
SNT Gatchaman

Thread 'Metabolic adaptation and fragility in healthy 3-D in vitro skeletal muscle tissues exposed to [CFS] and Long COVID-19 sera, 2025, Mughal+'

Metabolic adaptation and fragility in healthy 3-D in vitro skeletal muscle tissues exposed to Chronic Fatigue Syndrome and Long COVID-19 sera.
Sheeza Mughal; Félix Andújar-Sánchez; Maria Sabater-Arcis; Glória Garrabou; Joaquim Fernández-Solà; Jose Alegre-Martin; Ramon Sanmartin Sentañes; Jesus Castro-Marrero; Anna Esteve-Codina; Eloi Casals; Juan M Fernández-Costa; Javier Ramón-Azcón

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Long COVID-19 (LC-19) are complex conditions with no diagnostic markers or consensus on disease progression. Despite extensive...
  • SNT Gatchaman
  • calcium glycolysis mitochondria mitochondrial morphology muscle muscle fatigability oxygen use serum something in the blood
  • Replies: 52
  • Forum: ME/CFS research
  • Like
Andy

Thread 'Decreased Fatty Acid Oxidation and Altered Lactate Production during Exercise in Patients with Post-acute COVID-19 Syndrome, 2022, de Boer et al'

To the Editor:

After acute infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), many individuals experience a range of symptoms including dyspnea, exercise intolerance, and chest pain commonly referred to as “post–COVID-19 syndrome” or as post-acute sequelae of SARS-CoV-2 infection (PASC) (1). Exertional dyspnea and physical activity intolerance in PASC can be debilitating despite mild acute coronavirus disease (COVID-19) and normal resting pulmonary physiology and cardiac function (2). There is an urgent need to understand the pathogenesis of...
  • Andy
  • fatty acid oxidation lactate long covid mitochondrial dysfunction oxygen extraction
  • Replies: 4
  • Forum: Long Covid research
  • Like
SNT Gatchaman

Preprint Thread 'Dissecting the genetic complexity of myalgic encephalomyelitis/chronic fatigue syndrome via deep learning-powered genome analysis, 2025, Zhang+'

Dissecting the genetic complexity of myalgic encephalomyelitis/chronic fatigue syndrome via deep learning-powered genome analysis
Sai Zhang; Fereshteh Jahanbani; Varuna Chander; Martin Kjellberg; Menghui Liu; Katherine Glass; David Iu; Faraz Ahmed; Han Li; Rajan Douglas Maynard; Tristan Chou; Johnathan Cooper-Knock; Martin Jinye Zhang; Durga Thota; Michael Zeineh; Jennifer Grenier; Andrew Grimson; Maureen Hanson; Michael Snyder

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex, heterogeneous, and systemic disease defined by a suite of symptoms, including...
  • SNT Gatchaman
  • b cells cd4+ genetics glutamate glutamine hanson hla machine learning neuroligin proteasome synapse t cells ubiquitin
  • Replies: 475
  • Forum: ME/CFS research
  • Like
SNT Gatchaman

Thread 'Heightened innate immunity may trigger chronic inflammation, fatigue and [PEM]…, 2025, Che, Hornig, Bateman, Klimas, Komaroff, Lipkin+'

Link to published paper here


Preprint:

Heightened innate immunity may trigger chronic inflammation, fatigue and post-exertional malaise in ME/CFS
Xiaoyu Che; Amit Ranjan; Cheng Guo; Keming Zhang; Rochelle Goldsmith; Susan Levine; Kegan J. Moneghetti; Yali Zhai; Liner Ge; NISCHAY MISHRA; Mady Hornig; Lucinda Bateman; Nancy G. Klimas; Jose Gilberto Montoya; Daniel L. Peterson; Sabra L. Klein; Oliver Fiehn; Anthony L. Komaroff; W. Ian Lipkin

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterized by unexplained fatigue, post-exertional malaise...
  • SNT Gatchaman
  • amino acids calcium complement copper extracellular matrix fatty acid metabolism fatty acid oxidation gdf15 gut microbiome herv innate immune system integrins interferon gamma kynurenine lipid metabolism lipids metabolism pem serotonin tryptophan vegf
  • Replies: 48
  • Forum: ME/CFS research
  • Like
Mij

Thread 'Signatures of Mitochondrial Dysfunction and Impaired Fatty Acid Metabolism in Plasma of Patients with Post-Acute Sequelae of COVID-19 (PASC), 2022, Va'


Abstract
Exercise intolerance is a major manifestation of post-acute sequelae of severe acute respiratory syndrome coronavirus infection (PASC, or “long-COVID”). Exercise intolerance in PASC is associated with higher arterial blood lactate accumulation and lower fatty acid oxidation rates during graded exercise tests to volitional exertion, suggesting altered metabolism and mitochondrial dysfunction. It remains unclear whether the profound disturbances in metabolism that have been identified in plasma from patients suffering from acute coronavirus disease 2019...
  • Like
 
Wyva

Thread 'Multi-omics identifies lipid accumulation in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cell lines: a case-control study, 2026, Missailidis et'

"We are providing an unedited version of this manuscript to give early access to its findings. Before final publication, the manuscript will undergo further editing. Please note there may be errors present which affect the content, and all legal disclaimers apply."

Daniel Missailidis, Christopher W. Armstrong, Dovile Anderson, Claire Y. Allan, Oana Sanislav, Paige K. Smith, Tammy Esmaili, Darren J. Creek, Sarah J. Annesley & Paul R. Fisher

Abstract​

Background​

In recent years, evidence has indicated a metabolic shift towards increased demand for lipids in various...
  • Wyva
  • chris armstrong lipidomics lipids metabolism metabolomics missailidis
  • Replies: 103
  • Forum: ME/CFS research
  • Like
Andy

Thread 'Sex-specific plasma lipid profiles of ME/CFS patients and their association with pain, fatigue, and cognitive symptoms, 2021, Nkiliza, Klimas et al'

Abstract

Background
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex illness which disproportionally affects females. This illness is associated with immune and metabolic perturbations that may be influenced by lipid metabolism. We therefore hypothesized that plasma lipids from ME/CFS patients will provide a unique biomarker signature of disturbances in immune, inflammation and metabolic processes associated with ME/CFS.

Methods
Lipidomic analyses were performed on plasma from a cohort of 50 ME/CFS patients and 50...
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adreno

Thread 'Metabolic profiling reveals anomalous energy metabolism and oxidative stress pathways in CFS, 2017, Armstrong et al'

Not new, but interesting and important:
Christopher W. Armstrong, Neil R. McGregor, Donald P. Lewis, Henry L. Butt, Paul R. Gooley

Abstract

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating long-term multisystem disorder with a central and inexplicably persistent fatigue symptom that is unable to be relieved by rest. Energy metabolism and oxidative stress have been recent focal points of ME/CFS research and in this study we were able to elucidate metabolic pathways that were indicative of their dysfunction. Blood and urine samples were collected from 34...
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  • adreno
  • 2017 chris armstrong glutamate hypoxanthine me/cfs metabolism oxidative stress paper
  • Replies: 0
  • Forum: ME/CFS research
  • Like
John Mac

Thread 'An Isolated Complex V Inefficiency and Dysregulated Mitochondrial Function in Immortalized Lymphocytes from ME/CFS Patients Missailidis et al. 2019'

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is an enigmatic condition characterized by fatigue that is unaided by rest and by exacerbation of symptoms after exertion (post-exertional malaise or “PEM”).

There is no definitive molecular marker or known underlying pathological mechanism for the condition.

Increasing evidence for aberrant energy metabolism suggests a role for mitochondrial dysfunction in ME/CFS.

Our objective was therefore to measure mitochondrial function and cellular stress sensing in actively metabolising patient blood cells.

We immortalized...
Click to expand...
  • John Mac
  • atp complex v fisher lymphoblasts me/cfs missailidis mitochondria mtor seahorse
  • Replies: 71
  • Forum: ME/CFS research
  • Like
Sly Saint

Thread 'A map of metabolic phenotypes in patients with myalgic encephalomyelitis/chronic fatigue syndrome, 2021, Fluge, Mella et al'

Abstract


Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating disease usually presenting after infection. Emerging evidence supports that energy metabolism is affected in ME/CFS, but a unifying metabolic phenotype has not been firmly established.

We performed global metabolomics, lipidomics, and hormone measurements, and we used exploratory data analyses to compare serum from 83 patients with ME/CFS and 35 healthy controls. Some changes were common in the patient group, and these were compatible with effects of elevated energy strain and altered...
  • Like
 
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