genomic regions connected to myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) are more susceptible to alteration, reveals a study involving over 27,000 participants

genomic regions connected to myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) are more susceptible to alteration, reveals a study involving over 27,000 participants

In a groundbreaking development, the world's largest study investigating the causes of Myalgic Encephalomyelitis (ME)/Chronic Fatigue Syndrome (CFS) has identified eight genetic regions significantly associated with the condition [1][2][3]. The DecodeME study, led by the University of Edinburgh, has pinpointed these regions, many of which relate to immune response and nervous system functions, offering a promising new direction for research into treatments for this debilitating illness.

Dr Charles Shepherd, Trustee and Honorary Medical Advisor to the ME Association, described the announcement as "a very important day for people with ME/CFS", sparking renewed hope for those affected by the condition [1]. The study's findings provide biological validation for ME/CFS, supporting a biological—rather than purely psychological—origin of the condition, which may reduce stigma and guide future diagnosis and treatment development [2].

Key points about these genes and their effects on ME/CFS development include:

• Immune-related genes: These regions include genes involved in immune system signaling and function, suggesting that altered immune responses—especially following infections—may predispose individuals to developing ME/CFS. This aligns with clinical observations where many ME/CFS cases reportedly begin after viral or other infections [1][2].
• Nervous system genes: Some of the identified variants affect neuronal pathways linked to brain function and sensory processing, which may contribute to symptoms like chronic pain, cognitive dysfunction (often called "brain fog"), and autonomic nervous system abnormalities seen in ME/CFS [1][2][3].
• These gene variants do not guarantee the illness but increase susceptibility, indicating a complex interplay of genetics and other factors (environment, infections, microbiome) in disease development [2][3].

Sonya Chowdhury, CEO of Action for ME and a member of the study's management team, stated that the study has given researchers clear targets, bringing ME/CFS in line with other long-term diseases which have genetic components [1]. Andy Devereux-Cooke, a study co-investigator, emphasized the vital contribution of the ME/CFS patient community to the study, without whom the achievements would not have been possible [1].

The condition shares some similarities with long COVID, with people with a history of COVID-19 reportedly more likely to develop ME/CFS [3]. One of the genetic signals highlighted in the study has also previously been identified in people with chronic pain [1]. However, Professor Alan J Carson cautioned that finding a few associated genes has not advanced understanding of mechanism or novel treatments in disorders like depression, and that this is a long way off [1].

The DecodeME study analysed over 15,500 DNA samples from 27,000 patients, representing the largest dataset in the world for this patient population [1]. The results reported in the latest preprint are based only on people with European ancestries, but the DecodeME team say that analysis of more diverse DNA data is ongoing [1].

Patients with ME/CFS may experience disbelief from medical professionals when seeking a diagnosis, and the condition can cause extreme fatigue that is not relieved by rest. In the most severe cases, patients may become bedbound and unable to tolerate light, sounds, smells, and touch; some require support with nutrition [1].

Dr Amy Mason, a Research Associate at the University of Cambridge, agreed that the lack of diversity was a limitation, but said the results are still likely to be relevant more broadly [1]. The study has reported findings from their first set of questionnaire data from 17,000 patients, showing that female patients with ME/CFS are more likely to experience co-occurring conditions like irritable bowel syndrome [1].

ME/CFS affects an estimated 67 million people worldwide [1]. The preprint, which has not been peer reviewed, is available via the University of Edinburgh [1]. Mason stated that the study identifies some key potential areas for future study and helps shift the narrative for patients who have frequently been told that their illness is psychosomatic or made to believe that their symptoms aren't real [1].

[1] - https://www.ed.ac.uk/news/2023/decodeme-study-identifies-genetic-regions-linked-to-me-cfs [2] - https://www.meaction.net/2023/03/14/decode-me-study-identifies-genetic-regions-linked-to-me-cfs/ [3] - https://www.bbc.co.uk/news/health-64724060

1. The DecodeME study, a large-scale investigation into the causes of Myalgic Encephalomyelitis (ME)/Chronic Fatigue Syndrome (CFS), has identified eight genetic regions significantly associated with the condition, many of which relate to immune response and nervous system functions.
2. In a groundbreaking development, the findings provide biological validation for ME/CFS, supporting a biological—rather than purely psychological—origin of the condition.
3. Some of the identified variants in immune-related genes suggest that altered immune responses, especially following infections, may predispose individuals to developing ME/CFS.
4. Nervous system genes found in the study affect neuronal pathways linked to brain function and sensory processing, which may contribute to symptoms like chronic pain, cognitive dysfunction, and autonomic nervous system abnormalities seen in ME/CFS.
5. The study's CEO, Sonya Chowdhury, stated that the findings give researchers clear targets, bringing ME/CFS in line with other long-term diseases which have genetic components.
6. The study identifies some key potential areas for future study and helps shift the narrative for patients who have frequently been told that their illness is psychosomatic or made to believe that their symptoms aren't real, thus reducing stigma and fostering advancements in public health and mental-health-related disciplines in health-and-wellness research, neurological-disorders treatment, and chronic-disease management.

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