People diagnosed with myalgic encephalomyelitis (ME)\/chronic fatigue syndrome (CFS) have significant differences in their DNA (deoxyribonucleic acid), compared to those without the condition, according to a \u201cgroundbreaking\u201d new study in Britain.<\/p>\n
The scientists involved said the findings offer the first robust evidence that genes contribute to a person\u2019s chance of developing the disease.<\/p>\n
The DecodeME study, said to be the largest of its kind in the world, uncovered eight areas of genetic code in people with ME\/CFS that are markedly different to the DNA of people without the condition.<\/p>\n
They hope that the findings will boost \u201cvalidity and credibility\u201d for affected patients, and help rebuff some of the stigma and lack of belief that exists around the condition.<\/p>\n
There is currently no diagnostic test or cure for ME\/CFS, which is believed to affect around 67 million people worldwide.<\/p>\n
Very little is known about what causes it.<\/p>\n
A key feature of the condition is a disproportionate worsening of symptoms following even minor physical or mental activity, known as post-exertional malaise (PEM).<\/p>\n
Other symptoms include pain, brain fog and extreme energy limitations that do not improve with rest.<\/p>\n
Related to infections<\/p>\n
For the new study, the researchers analysed 15,579 DNA samples from the 27,000 people with ME\/CFS participating in DecodeME, described as the world\u2019s largest dataset of people with the disease.<\/p>\n
The eight regions of DNA where scientists found genetic differences involve genes linked to the immune and nervous systems.<\/p>\n
At least two of the genetic signals relate to how the body responds to infection, which researchers said aligns with long-standing patient reports that the onset of symptoms often followed an infectious illness.<\/p>\n
DecodeME investigator and University of Edinburgh Medical Bioinformatics Chair Prof Dr Chris Ponting said: \u201cThis is a wake-up call.<\/p>\n
\u201cThese extraordinary DNA results speak the language of ME\/CFS, often recounting people\u2019s ME\/CFS symptoms.<\/p>\n
\u201cDecodeME\u2019s eight genetic signals reveal much about why infection triggers ME\/CFS and why pain is a common symptom.<\/p>\n
\u201cME\/CFS is a serious illness and we now know that someone\u2019s genetics can tip the balance on whether they are diagnosed with it.\u201d<\/p>\n
As a person\u2019s DNA does not change over time, experts say the genetic signals identified would not have developed because of ME\/CFS and are therefore likely to reflect the causes of the disease.<\/p>\n
Populations used in the initial study were limited to those from European ancestries.<\/p>\n
DecodeME research studying DNA data from all ancestries is ongoing.<\/p>\n
ME\/CFS affects more females than males, although researchers found nothing to explain why this is the case.<\/p>\n
The DecodeME team is now calling on researchers from around the world to access its \u201crich\u201d dataset and help drive forward targeted studies into ME\/CFS.<\/p>\n
Breaking down disbelief<\/p>\n
DecodeME co-investigator and British charity Action for ME chief executive Sonya Chowdhury said: \u201cThese results are groundbreaking.<\/p>\n
\u201cWith DecodeME, we have gone from knowing next to nothing about the causes of ME\/CFS, to giving researchers clear targets.\u201d<\/p>\n
She also hopes the discoveries will help change the way the condition is viewed.<\/p>\n
She said: \u201cThis really adds validity and credibility for people with ME.<\/p>\n
\u201cWe know that many people have experienced comments like \u2018ME is not real\u2019, or they\u2019ve been to doctors and been disbelieved or told that it\u2019s not a real illness.<\/p>\n
\u201cWhilst things have changed and continue to change, that is still the case for some people and we hear that repeatedly as a charity.<\/p>\n
\u201cBeing able to take this study into the treatment room and say there are genetic causes that play a part in ME is going to be really significant for individuals.<\/p>\n
\u201cIt will rebuff that lack of belief and the stigma that exists.\u201d<\/p>\n
The findings have been reported in a pre-print publication, or unpublished study.<\/p>\n
During a media briefing about the study, researchers were asked about similarities between the symptoms of long Covid and ME\/CFS.<\/p>\n