Neuropathy & Infection: Genetic Cause Found
- A newly discovered genetic change may explain why some individuals develop a severe form of neuropathy, a nerve disorder affecting sensation and movement, after an infection.
- Rob Harkness, a postdoctoral research fellow at the University of Manchester, presented the findings at the European Society of Human Genetics annual conference.
- "We identified a change in a gene that we thoght was likely to be the cause," Harkness said.
Researchers have uncovered a genetic link in neuropathy following infection, specifically pointing to a gene alteration that may explain why some individuals develop this nerve disorder. This groundbreaking finding could revolutionize our understanding of the disease mechanism. This insight, presented at the European society of Human Genetics annual conference, offers hope for quicker diagnoses and potentially new treatments and prevention strategies. The research,which included studying patient cells and exploring similarities to motor neuron disease,is now expanding to include a global search for related cases. Discover how this genetic variation, sensitive to stress and infection, affects nerve cells and, ultimately, what this means for you; News Directory 3 has the latest developments. Discover what’s next in neuropathy research…
Genetic link Found in Neuropathy After Infection
Updated May 26, 2025
A newly discovered genetic change may explain why some individuals develop a severe form of neuropathy, a nerve disorder affecting sensation and movement, after an infection. Researchers in the United Kingdom have pinpointed distinct genetic alterations in this neuropathy, believing their work will shed light on the underlying mechanisms.
Dr. Rob Harkness, a postdoctoral research fellow at the University of Manchester, presented the findings at the European Society of Human Genetics annual conference. The research began with a case of a young child who developed severe weakness and breathing difficulties following a mild fever and rash. The child later died before her first birthday, mirroring a similar pattern in her two older brothers.
“We identified a change in a gene that we thoght was likely to be the cause,” Harkness said. “Now we know of 12 affected families with changes in this gene.”
The effects of this genetic change resemble those seen in Guillain-Barré syndrome, a neuropathy also triggered by infections. This condition can cause weakness throughout the body, including respiratory muscles.
Harkness hopes the discovery will provide insights into the mechanisms causing the problem. experiments on patient cells show similarities to motor neuron disease (MND), possibly allowing knowledge gained from MND research to aid patients with this newly defined condition, and vice versa.
“Regrettably, there are currently no effective prevention strategies for such neuropathies, but our greater understanding of the causes of these conditions will be the first step towards developing treatments,” Harkness said.
The findings enable quicker and more accurate diagnoses, potentially replacing lengthy and costly investigations. At-risk individuals can now undergo preconception testing to inform their reproductive choices.
Since publicizing their work, the researchers have identified more families worldwide, suggesting the rare condition may be more common than initially thought. They are creating nerves from patient skin cells to understand why the disorder specifically affects the nervous system and to test potential treatments. They are also conducting parallel studies using fruit flies.
According to Harkness, the identified gene controls the movement of proteins and nucleic acids between the cell nucleus and cytoplasm. This movement is highly sensitive and susceptible to stress, temperature, and infection. When this process is disrupted in nerve cells, they cannot be repaired.
Professor Alexandre Reymond, chair of the conference, said, “This is a textbook example of gene-environment interaction. All of us carry in our respective genomes small alterations (genetic variants) that put us at risk of environmental changes, in this case specific infections.”
What’s next
The researchers plan to continue investigating the specific mechanisms by which this genetic mutation leads to neuropathy, with the goal of developing targeted therapies to prevent or treat the condition.