...
By Jasmine Laws
Reporter
0
Share
Newsweek is a Trust Project member
See more of our trusted coverage when you search.Prefer Newsweek on Googleto see more of our trusted coverage when you search.
A new study has revealed that those with myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) have notable genetic differences from the general population.
The DecodeME research team, led by experts at the University of Edinburgh in Scotland, noted that, as DNA does not change following an onset of ME/CFS, the findings indicate that genetic signals may be a cause of the condition.
"This is the first robust genetic evidence that there is a predisposition to ME/CFS written into our DNA," Chris Ponting, principal investigator of the study, chair of Medical Bioinformatics and investigator at the MRC Human Genetics Unit, Institute of Genetics and Cancer, at the University of Edinburgh, told Newsweek.
Read More on Health
"For years, people with ME/CFS have felt dismissed and their symptoms ignored," he said.
DecodeME has been investigating many other diseases over the last 15 years, and Ponting said that, "in this sense, DecodeME has come 15 years too late."
"ME/CFS research and people with ME/CFS should have had the benefit of its approach over all those intervening years," he said.
"We think it's been delayed because ME/CFS is a highly stigmatized disease, and because it is highly biased towards women," he added, saying that now, DecodeME's research "puts ME/CFS on a more equal footing with other research and provides a clear map of where future research should now be focused."
...
What Is ME/CFS?
ME/CFS is a long-term condition that can affect different parts of the body, resulting in a wide range of debilitating symptoms.
The most commonly recognized symptom is extreme fatigue, a degree of fatigue that far exceeds tiredness, which can limit a patient's ability to carry out daily activities, work and exercise, while also causing sleep problems like insomnia or non-restorative sleep.
Other symptoms include cognitive issues and difficulty, affecting concentration and memory, as well as headaches, joint and muscle aches, flu-like symptoms, and many others.
Many patients also notice their symptoms worsen following physical, mental or emotional exertion, which is known as post-exertional malaise, or PEM, and patients can take days to weeks to recover from these flares in symptoms.
Depending on the severity of the condition, even a short walk or other activities that might seem insignificant to someone without the condition could trigger major flares in symptoms.
The condition, therefore, has a profound impact on a patient's life, leaving many bedbound and others significantly limited in what they can do in a day.
Tens of millions worldwide have the condition, with estimates on U.S. prevalence varying between just less than a million to 1.5 million, according to the American Myalgic Encephalomyelitis and Chronic Fatigue Syndrome Society.
It typically affects more women than men, and in most cases starts following an infection, with the COVID pandemic increasing the number of cases, according to a January 2025 study in the Journal of General Internal Medicine.
However, the condition can be easily misdiagnosed, according to ME Research UK, making it difficult to know the exact number of those with the illness.
What Did the Study Find?
The DecodeME study found eight different genetic signals between those with ME/CFS and those without.
The researchers analyzed 15,579 DNA samples of those with ME/CFS and the DNA of 259,909 people without ME/CFS, all of European descent.
The eight genetic signals found to be different between ME/CFS patients and those without the condition were involved in both the immune and the nervous systems, which the researchers said suggested there are immunological and neurological causes behind the illness.
There were also at least two signals found to relate to the body's response to infection.
"Finding variations in genes that differ between people with or without a disease can therefore point to what causes it," the researchers wrote.
However, the researchers noted that as these differences can also be found in people without ME/CFS, the findings cannot "cleanly separate who is at risk and who is not, and therefore do not provide a definitive test."
There was also no clear explanation found as to why more women than men get the condition, the researchers added.
"The initial results of this huge study are ground breaking," Julia Newton, a consultant physician specializing in fatigue at the Newcastle Upon Tyne Hospitals and a medical director of the Academic Health Science Network in North East and North Cumbria, England, told Newsweek.
"The research team from Edinburgh have shown that those with a diagnosis of ME/CFS have differences in their genes which suggests that there may be a biological abnormality in individuals that could make them more susceptible to getting ME/CFS or to having persistent disease," Newton, who was not involved in the study, said.
...
The 'Stigma' Around ME/CFS
When ME/CFS was first described 40 years ago, "the usual laboratory tests ordered by doctors came back normal," Dr. Anthony Komaroff, a professor of medicine at the Harvard Medical School and a senior physician at Brigham and Women's Hospital not involved in the study, told Newsweek.
"This led some doctors to claim the illness was psychological, and that there were no underlying objective abnormalities," he said.
He said that some still hold that view because, "in my opinion, they have not bothered to keep up with the science."
"In fact, we now know there are multiple underlying abnormalities involving the brain, immune system, energy metabolism, vascular system, and gut microbiome," he said.
"The DecodeME study provides additional evidence that ME/CFS is not primarily a psychological illness," he added.
In light of that, Newton said that the findings are a "game changer for our understanding of the disease and also its perception."
"For decades, those with ME/CFS have been stigmatized and confirming a genetic difference in those with the condition vindicates the struggle that the ME/CFS community has had, to recognize ME/CFS as a physical condition that impacts individuals with the same, or greater, severity as other chronic medical conditions," she said.
Importantly, the researchers note that their findings reveal "no evidence that the eight ME/CFS genetic signals share common causal genetic variants with depression or anxiety," affirming that, despite the misconception, the disease is not psychological.
"ME/CFS has often been misdiagnosed as depression or anxiety," Ponting said. "We checked whether DecodeME's eight genetic signals had been found before for other diseases, but drew a blank."
Sir Simon Wessely, a professor of psychological medicine at King's College London told Newsweek that there is already "ample evidence that ME/CFS is not the same as depression, but that previous depression increases the risk of developing ME/CFS, which needs explaining, and I would be surprised if genetics does not play some part in this."
He said that while it is understood ME/CFS is not an anxiety disorder, "anxiety can impede recovery."
"The fact that ME/CFS involves both excessive physical and mental fatigue and fatiguability after both physical and mental exertion already tells us that the causes are most likely to be central, i.e., the brain, rather than peripheral—these new findings reinforce that, but we are still a long way from knowing why," he said.
"Unravelling multigenic and multi factorial conditions such as ME/CFS is going to be a long haul, as those who have been researching the genetics of psychiatric disorders have already found out," he added.
What Does This Mean For ME/CFS Treatment?
"We've always said that DecodeME results will not lead directly to new treatments or diagnostic tools," Ponting said. "Rather, what they do is guide where further research needs to be focused."
He said that scientists from around the world now need to "use their expertise to find out exactly what DecodeME's genetic signals mean and this, in turn, should help accelerate finding treatments for ME/CFS."
Ponting said that some people with ME/CFS have informed DecodeME that the results have been "validating."
"They tell us that these results will help them in conversations with medical professionals, family and friends, to be believed, taken seriously and to obtain support," he said.
"Many also tell us that they are giving them hope, where there has been none before, and are lifting the burden from their shoulders of the guilt and self-doubt that they have built up from not being believed," he added.
Komaroff said that he expected the DecodeME study "will increase research into the specific problems with the brain and immune system in people with ME/CFS, and this research may then lead to identifying possible new treatments."
"I would like to think that it will generate even more interest in the scientific community to study the underlying biology of the illness, and more funding for those studies," he added.
Newton said the findings "point towards potential targets for further study and then ultimately focused treatments."
"I sincerely hope that this study, resets the narrative around ME/CFS, encourages further research in this debilitating disease and begins the path towards effective, evidence based treatments," she said.
She added that "there is a long road ahead but I am optimistic that this is the start of a journey that will improve the lives of those with ME/CFS and perhaps even eradicate it."
View 0 Comments
Submit Correction
View Editorial & AI Guidelines