Scientists have found the first robust evidence that people’s genes affect their chances of developing myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS), a mysterious and debilitating illness that has been neglected and dismissed for decades by many in the medical community.
Early findings from the world’s largest study into the genetics of the condition pinpointed eight regions of the human genome that were substantially different in people with an ME/CFS diagnosis compared to those without the illness.
The discovery suggests that several variants of genes commonly found in the population raise the risk of developing the illness, though many people will carry the variants and never acquire it.
Prof Chris Ponting, an investigator on the DecodeME study at the University of Edinburgh, called the results “a wake-up call” that showed a person’s genetics could “tip the balance” on whether they would develop ME/CFS.
“These provide the first robust evidence for genetic contributions to ME,” Ponting said. “There are many genetic variants that apply across the genome that predispose people to be diagnosed with ME.”
More research is needed to develop diagnostic tests or screenings to identify people at high risk of ME/CFS. But scientists called the work a milestone that put the illness on an equal footing with other debilitating diseases and opened potential avenues for treatments.
“This really adds validity and credibility for people with ME,” said Sonya Chowdhury, chief executive of Action for ME and a DecodeME co-investigator. “We know that many people have experienced comments like ‘ME is not real’. They’ve been to doctors and they’ve been disbelieved or told that it’s not a real illness.”
Despite its long history, scientists understand very little about the causes of ME/CFS, though most patients report an infection before symptoms first appear. Typical symptoms include extreme tiredness, sleep problems, brain fog and a worsening of symptoms after physical or mental activities, known as post-exertional malaise, which can take weeks to recover from.
It is estimated that 67 million people are affected by ME/CFS at an annual cost to the global economy of tens of billions of pounds. In the UK, the annual economic toll is calculated at more than £3bn. There is no test or cure for the illness.
The DecodeME study, a collaboration between Edinburgh University, ME charities and patients, was launched in 2022 to explore whether…
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