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Inherited form of hearing loss stems from gene mutation
Date:7/31/2008

ancient one and not particularly rare. Future research may find that it affects others who have an unexplained family history of hearing loss, says Lesperance, an associate professor of pediatric otolaryngology at the U-M Medical School.

The form of deafness, which the researchers have named DFNA25, also is of interest for further research because it closely resembles the hearing loss common in people as they age, called presbycusis.

"Some people with the mutation have hearing loss in their 40s of the kind we normally see in people a decade or more older," says Lesperance. "Often, identifying a gene in individuals who have early onset of a disorder will help explain why the disorder occurs in the general population."

The key to identifying which gene was responsible for the families' hearing loss occurred in French scientist Jean-Luc Puel's laboratory. Puel and his research team, also authors of the study, discovered that a mouse lacking the SLC17A8 gene was deaf.

Through extensive studies, the French research team and colleagues in Germany also were able to discover precisely how the SLC17A8 gene and the protein it encodes, VGLUT3, are needed in the inner ear to process the hearing signal. There, VGLUT3 normally promotes the presence of glutamate, a neurotransmitter important in allowing the ear's inner hair cells to convey signals to the auditory nerve, which carries them to the brain. The mutation in the families most likely interferes with that process.

Implications:

Lesperance hopes the research will encourage families and physicians to be alert to the possibility that hearing problems are inherited. That may spur more people to take prompt action such as frequent hearing tests in the young and early use of hearing aids, as well as genetic counseling to understand the chances of occurrence in future children.

"In many types of hereditary hearing loss, it's likely that environmental factors t
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Contact: Anne Rueter
arueter@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert  

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