Tatiana Volkova / stock.dobe.com
British researchers have identified eight “genetic signals” which differ in people with myalgic encephalomyelitis.
A discovery that could change the lives of people with myalgic encephalomyelitis (EM) or chronic fatigue syndrome (SFC). Of the “Genetic signals” would be linked to this disease, according to a major study entitled Decodeme. Fruit of collaboration between the University of Edinburgh, charitable associations and patients with EM/SFC, the project was launched in 2022 in order to explore the role of genes in the development of syndrome. The researchers who worked there have, to do this, analyzed 15,579 DNA samples from people with EM/SFC and those of more than 250,000 people not affected.
The first results, shared at a conference at the beginning of the month, have not yet been published in a reading committee review, but have been available since August 6 on the University of Edinburgh website. Decodeme researchers explain that they have identified eight genomic regions associated with EM/SFC. Their discovery suggests that several variants of genes commonly found in the population increase the risk of developing the disease, even if many people carrying these variants will never acquire it.
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Professor Chris Ponting, who participated in research work, comments with the Guardian : “These results constitute the first solid proof of the genetic influence of EM. Many genetic variants, present in the genome, predispose people to receive a diagnosis of EM. ”
“Predictable”
The eight genetic regions that have distinguished themselves in people with EM/SFC contain genes involved in the immune defenses and the nervous system. Research must still be done, but these results suggest that certain genetic variants could make people more vulnerable to EM/SFC by compromising their ability to combat bacterial and viral infections.
Questioned by the American journal Science, the statistician geneticist of the University of Aarhus Doug Speed (who did not participate in the work) praised the team’s approach. However, he warned that these genetic differences seem to explain that a tiny part of the risk of developing myalgic encephalomyelitis, leaving the majority of the unexplained variation. “It was largely predictable”he indicates, because for many human diseases, “The risk is influenced by thousands of genetic variants, each having only a minimal influence.”
The Decodeme team is still very positive. These discoveries “Really strengthen the credibility of people with EM”welcomed Sonya Chowdhury, Director General of Action for Me and Co-Investigator of Decodeme. “We know that many people have heard comments like” EM does not exist “. They consulted doctors who were not believed or who told them that it was not a real illness. ”
No treatment yet
Chronic fatigue syndrome is described by the American Review Science as being “misunderstood”. It would affect several million people worldwide. Typical symptoms include extreme fatigue, sleep disorders, brain fog and aggravation of symptoms after physical or mental activity, called post-effect discomfort, whose healing can take weeks, details the Guardian . Often diagnosed following an infection, EM/SFC has common symptoms with postviral diseases like long covid.
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There is no clinical test for this disease, the diagnosis of which is generally based on the elimination of other possible causes of symptoms. People with EM/SFC must have long been fighting against the idea that their illness is a rather than physical psychological disorder, since it is still rejected by many members of the medical community. In France, 250,000 people would be affected by this syndrome, including 80% of women. This prevalence in members of the second sex unfortunately could not be explained by the genetic study. If there is no treatment yet to treat EM/SFC, the researchers hope that their discoveries will encourage investors to finance more research work, which could make it possible to find one.
