Genetic Clues Emerge in Mystery of ME/CFS, Offering Hope for Future Treatments
EDINBURGH, SCOTLAND – A landmark genetic study has identified eight regions in the human genome linked to Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a debilitating illness affecting millions worldwide. The findings, from the decodeme study, represent a significant step forward in understanding the biological basis of the condition, which currently has no cure or definitive diagnostic test.
ME/CFS is a complex, chronic illness characterized by profound fatigue, post-exertional malaise (worsening of symptoms after physical or mental effort), and a range of other symptoms impacting multiple body systems. The economic burden of the illness in the UK alone exceeds £3 billion annually. For decades, ME/CFS has been shrouded in mystery, often dismissed or misunderstood, leaving patients struggling for recognition and effective care.
The DecodeME study, a collaboration between the University of Edinburgh, ME charities, and patients themselves, analyzed DNA samples from 27,000 individuals with ME/CFS and over 250,000 healthy controls. Researchers discovered that the identified genetic regions contain genes crucial for immune defense and nervous system function.While further research is needed to fully understand the mechanisms at play,the findings suggest some genetic variations may increase susceptibility to ME/CFS by weakening the bodyS ability to combat bacterial and viral infections. notably, a genetic link was also found to genes associated with chronic pain, a common symptom experienced by ME/CFS patients.
“what is happening here is the genetics align with how people with ME have described their illness,” stated Professor Chris Ponting, lead researcher on the study.
The findings are being hailed as a crucial validation for patients who have long felt dismissed.DecodeMe co-investigator Andy Devereux-Cooke emphasized the importance of the study, saying, “This will be huge for the patient population…it is a welcome drop in the ocean towards turning the tide.”
Despite the breakthrough, several key questions remain. The study did not uncover a genetic description for the disproportionate prevalence of ME/CFS in women – diagnoses are four times more common in females than males. Furthermore, researchers found no genetic overlap between ME/CFS and Long Covid, despite shared symptoms. Researchers are actively encouraging other scientists to utilize the data to explore these and other aspects of the illness.
while the results have not yet been published in a peer-reviewed journal, experts are optimistic about their potential. Professor Anne McArdle of the University of Liverpool called the findings “a solid basis” for future research aimed at developing effective treatments.Complementary research is also shedding light on the biological processes underlying ME/CFS. Dr. Beata Godlewska at the University of Oxford, using magnetic resonance spectroscopy, found elevated levels of lactate in the anterior cingulate cortex – a brain region involved in effort and emotional processing – in individuals with ME/CFS but not Long Covid.This suggests a disruption in energy metabolism within the brain and potential impairment of mitochondria, the cells’ energy producers.
Dr. Godlewska highlighted the ongoing challenges faced by ME/CFS patients, stating, “It’s a vrey sad fact that people with ME/CFS are still disbelieved and the disease has been so neglected…Hopefully this study will come with a benefit of both fighting the stigma, and convincing research funders that this is a truly biological condition.”
The DecodeME study and related research represent a turning point in the fight against ME/CFS, offering a glimmer of hope for a future where the illness is understood, diagnosed, and effectively treated.
