At Last: Breakthrough Research Confirms Biological Roots of ME/CFS

Imagine going to the doctor with an open wound needing stitches. Instead of treatment, you are told the wound is imaginary. This experience is similar to what many ME/CFS patients face. Their symptoms are sometimes dismissed as psychosomatic, despite being real and disabling.

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a long-term illness. It causes extreme fatigue, post-exertional malaise, pain, and brain fog. Symptoms often begin after an infection and can last for years. The disease affects more women than men and has no known cure.

A large UK preprint study linked eight genetic signals to ME/CFS. It is the largest genetic analysis of the disease ever done. The findings suggest ME/CFS has real biological causes, not just psychological ones. This research gives the illness a stronger scientific foundation and may guide future treatments.

What Genetic Links to ME/CFS Did the Study Find?

The study confirmed eight genetic variants linked to ME/CFS. These were validated in a second dataset of 13,000 cases. A third dataset of 14,000 cases did not reproduce the findings. This may be due to differences in diagnosis and case definitions.

One ME/CFS variant overlaps with a gene linked to chronic pain. Three other variants are involved in immune responses to viral or bacterial infections. This may explain why many patients develop symptoms after an infection. It may also help explain rising ME/CFS cases since the COVID-19 pandemic.

These genetic variants are more common in ME/CFS patients than in others. However, they are also found in people without the disease. This means they cannot predict risk on their own, but they still offer important clues about the biology of ME/CFS.

What Limitations Did Researchers Note in the ME/CFS Gene Study?

A second replication attempt in two biobanks with stricter definitions showed weaker evidence. This was partly due to differences in how diagnoses and post-exertional malaise are recorded. None of the eight associations matched those for depression. One locus overlapped with chronic pain signals.

No ME/CFS associations overlapped with the genetic signal linked to Long COVID. Several brain-expressed genes may contribute to ME/CFS risk. Drugs targeting these proteins could lower ME/CFS risk after infections.

The study did not explain why ME/CFS is more common in women. None of the eight signals showed significant sex bias. Chromosome X and Y variants have not yet been tested. Future research will fine-map variants, test functional effects, and include all ancestries.

Conclusion

A recent study provides strong evidence that genetics contribute to ME/CFS risk. These findings improve the chances of developing effective treatments and reducing disease stigma. Future research will expand testing, refine results, and include all genetic ancestries.

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Logan Hamilton is a health and wellness freelance writer for hire. He’s passionate about crafting crystal-clear, captivating, and credible content that elevates brands and establishes trust. When not writing, Logan can be found hiking, sticking his nose in bizarre books, or playing drums in a local rock band. Find him at loganjameshamilton.com.