UK researchers have discovered a genetic mutation that may explain why some people develop severe nerve damage after mild infections. The study sheds light on a newly identified form of neuropathy and could pave the way for future treatments.
Dr. Rob Harkness from the University of Manchester shared the story of a healthy baby who became critically ill after a mild infection. The child developed severe weakness and later died. Two of her older brothers had suffered the same fate.
After the first case, researchers found a gene mutation that seemed responsible. It wasn’t until ten years later that they found another family with the same mutation and symptoms. Now, 12 families have been identified with the same condition.
The symptoms match those seen in Guillain-Barré syndrome, a condition triggered by infections like Epstein-Barr virus or campylobacter. Healthy individuals can suddenly experience muscle weakness, which may spread to the whole body.
Dr. Harkness says patient cell studies show similarities to motor neurone disease (MND). Researchers hope that insights from MND could help guide treatments for this new neuropathy, though no current prevention exists.
The findings allow for quicker diagnosis, reducing the need for lengthy tests. At-risk individuals can now receive genetic screening before having children, helping them make informed reproductive choices.
Since publishing their findings, more families worldwide have come forward. This suggests the condition may be more common than first believed.
Researchers are turning skin cells into nerve cells to study the disease in the lab. They are also using fruit flies to explore how the condition works and test treatments in simpler organisms.
The gene identified controls how proteins and nucleic acids move inside cells. In affected patients, this movement is disrupted by stress, infection, or temperature, preventing nerves from repairing properly.
Professor Alexandre Reymond, chair of the conference, called this a clear example of how genes and environment interact. He noted that many people carry gene changes that make them vulnerable to environmental triggers, like infections.
