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A Central Florida Researcher’s Team Studies an Important Mutation in Charcot-Marie Tooth Disease
A mutation has been identified that causes nerve damage in Charcot-Marie Tooth Disease. Photo: Flickr Creative Commons
A researcher at the University of Central Florida might have found a new point of treatment for a common neurodegenerative disease called Charcot-Marie Tooth Disease by studying an important mutation in the disease pathway. UCF’s Steve King was able to trace the origins of the disease to faulty connections between neurons and muscles.
“Currently nobody knows they have this until the defects arise later in life.”
A mutation in a protein that causes these faulty connections could be targeted by future treatments, before irreversible damage takes place. One in 2500 Americans are born with the disease, making it more common than other neurodegenerative diseases like ALS.
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