The expression „born tired” no longer seems far from the truth after the new discoveries made by researchers. A comprehensive study suggests that genetics can „tilt the balance” towards the development of chronic fatigue syndrome.
Researchers have identified the first solid evidence showing that genetic predisposition plays a significant role in the onset of myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS), a mysterious and debilitating condition often ignored or minimized by the medical community, writes The Guardian.
The preliminary results of the largest genetic study conducted so far on this disease have indicated eight regions in the human genome that differ significantly in individuals diagnosed with ME/CFS compared to healthy ones.
The discovery suggests that certain genetic variants, relatively common in the population, can increase the risk of developing the disease, although not all carriers will end up being affected.
"It's an alarm signal. A person's genetics can tilt the balance in favor of disease development," said Prof. Chris Ponting, lead researcher in the DecodeME study at the University of Edinburgh. "These are the first solid pieces of evidence regarding the genetic contribution to myalgic encephalomyelitis," he added.
A huge step towards the scientific validation of the disease
The research opens up new perspectives for the development of diagnostic tests and the identification of individuals at high risk, but further investigations are still needed.
Nevertheless, scientists consider this step a milestone that places chronic fatigue syndrome on par with other serious illnesses.
"It is an important recognition for people with myalgic encephalomyelitis (ME)," said Sonya Chowdhury, executive director of the organization Action for ME and co-investigator in the DecodeME study.
Chronic fatigue syndrome remains poorly understood, although most patients report that symptoms began after an infection.
Among the characteristic symptoms are extreme fatigue, sleep disturbances, mental confusion, and a worsening of condition after physical or mental exertion.
Huge costs and lack of treatment
Approximately 67 million people suffer from ME/CFS globally, with an annual economic impact estimated at tens of billions of pounds, the publication further writes.
In the UK, annual costs exceed £3 billion. The disease currently lacks both a diagnostic test and a curative treatment.
The DecodeME study, launched in 2022, is a joint effort of the University of Edinburgh, patient organizations, and the patients themselves. Researchers analyzed 15,579 DNA samples from 27,000 individuals with ME/CFS and over 250,000 healthy individuals.
Genes involved in the immune system and chronic pain
The eight genetic regions that stand out contain genes involved in immune defense and the nervous system.
Some variants could affect the body's ability to fight bacterial or viral infections. Other genetic differences are similar to those observed in individuals with chronic pain, a common symptom in ME/CFS.
"In general, what we see here is that genetics align with how patients describe the disease," Ponting explained.
Andy Devereux-Cooke, another DecodeME co-investigator, stated that the discovery is "huge" for patients: "Most affected individuals have been abandoned in one way or another - by families, by the government, by the medical system. Even though it doesn't provide all the answers or immediate practical help, it is a welcome drop in an ocean that is finally starting to move."
Women are affected four times more often
One of the unresolved mysteries is why the syndrome affects four times more women than men. The study did not find a genetic explanation for this imbalance. Additionally, researchers examined whether there are genetic overlaps between ME/CFS and long Covid syndrome, but found no connection.
"One of the important things we are doing is providing others with the opportunity to use other methods to answer the same questions," Ponting said.
New biological leads and hopes for treatment
Prof. Anne McArdle, a researcher at the University of Liverpool, called the results "a solid foundation" for future research that could accelerate the development of a treatment.
Dr. Beata Godlewska, from the University of Oxford, recently scanned the brains of patients with ME/CFS and long Covid using magnetic resonance spectroscopy. Those with ME/CFS showed increased levels of lactate in the anterior cingulate cortex, an area involved in processing effort and emotions - indicating a possible dysfunction in cerebral energy metabolism and mitochondria.
"It's sad that people with ME/CFS are still not believed, and the disease has been so neglected, especially in terms of research funding. I hope this study helps combat the stigma and convinces funders that we are talking about a disease with real biological causes," said Godlewska.
G.P.