Researchers have identified genetic changes linked to a newly discovered neuropathy, offering potential insights into why some individuals develop nerve damage after infection. This discovery could lead to better diagnostics, reproductive planning, and potentially, future treatments for this debilitating condition.
A team from the UK investigated a rare case of rapid neuropathy in a child following a mild fever and rash. The child, along with two elder brothers exhibiting similar symptoms, prompted a genetic study. Dr. Rob Harkness from the University of Manchester presented these findings at the European Society of Human Genetics annual conference.
The researchers identified a specific gene change responsible for the neuropathy. This gene plays a crucial role in controlling the movement of proteins and nucleic acids between the cell nucleus (the cell's control center) and the cytoplasm (the fluid inside the cell). This movement is essential for cell function and repair, and is particularly sensitive to stress, temperature, and infection.
The effects of this genetic change mirror those seen in Guillain-Barré syndrome, another infection-triggered neuropathy. The discovery allows for rapid and accurate diagnosis, potentially avoiding lengthy and costly investigations. Furthermore, at-risk individuals can now undergo preconception testing to inform their reproductive choices.
Dr. Harkness and his team are continuing their research by creating nerves from skin cells of affected individuals. This will help them understand why the disorder specifically affects the nervous system. They aim to test potential treatments, mirroring these studies in fruit flies to accelerate the research process.
Professor Alexandre Reymond, Chair of the conference, highlighted this as a prime example of gene-environment interaction. He noted that genetic variants can predispose individuals to risks from environmental factors, such as specific infections.
This discovery marks a significant step towards understanding and potentially treating infection-triggered neuropathies. By identifying the specific gene involved, researchers can now focus on developing targeted therapies and prevention strategies, offering hope for those affected by this condition.