Financial Times‘
Groundbreaking’ research finds ‘genetic signals’ for the long-stigmatized illness
People with chronic fatigue syndrome have a different genetic profile to the general population, with DNA variations in their immune and nervous systems, the biggest biological study of the disease has shown.
The Edinburgh university project analysed DNA from 15,500 people with the syndrome, finding their samples varied significantly from non-sufferers in eight small regions. The scientists have identified the differing genes and called them “genetic signals” of the condition.
The results could lead to diagnostic tests for the mysterious and heavily stigmatised disease of prolonged exhaustion, also known as myalgic encephalomyelitis or ME/CFS.
Many of the estimated 67mn people worldwide with ME/CFS “have been to doctors and been disbelieved or told it’s not a real illness,” said Sonya Chowdhury, chief executive of the charity Action for ME. “We’ll be able to take this study into the treatment room . . . and rebuff that lack of belief.”
The results are “groundbreaking”, said Chowdhury, who helped guide the study. “We have gone from knowing next to nothing about the causes of ME/CFS to giving researchers clear targets.”
The eight genetic signals discovered include two that relate to the body’s response to infection — which corresponds with patients often reporting that their symptoms started after an infectious illness. Others are linked to the nervous system and one is associated with chronic pain.
“These signals align with how people with ME/CFS describe their illness,” said study leader Chris Ponting, Edinburgh’s professor of medical bioinformatics.
But the results are not sufficient on their own to use for developing tests or treatments, he added.
“Highly targeted studies are now needed to understand why each of these eight signals is linked with ME/CFS so that we can move towards future diagnostics and treatments,” Ponting said. “It is a forgotten and forsaken disease that should have had a genetic study like this 15 years ago.”
The results have not yet been submitted for publication in a peer-reviewed journal, but a paper will be posted shortly on the MedRxiv preprint server.
The findings do not shed light on any overlap between ME/CFS and Long Covid, which affects an estimated 950,000 people in the UK, in addition to the roughly 400,000 with ME/CFS.
The two conditions share symptoms, such as profound malaise following mental or physical exertion, but they are not identical and no shared genetic factors have yet been identified, said Ponting.
Another remaining mystery is why about 80 per cent of people diagnosed with ME/CFS are female. The genetic signals discovered by the study gave no hint of an explanation for the imbalance.
Andy Devereux-Cooke, a long-term ME sufferer involved in the study, said: “This paper will be huge for the patient population who feel abandoned, even though it does not provide all the answers or provide practical assistance.”