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Genetic defect plays role in hearing loss too

United States America,Health/Medicine, Mon, 01 Oct 2012 IANS

Washington, Oct 1 (IANS) Going deaf? Blame a genetic mutation, linked with Usher syndrome type 1, says the latest finding, which could help develop more effective ways of treating this syndrome.

Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina.

Researchers from the University of Cincinnati and Cincinnati Children's Hospital Medical Centre, partnered the study with the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky, the journal Nature Genetics reports.

"Researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," says Zubair Ahmed, assistant professor of ophthalmology from Cincinnati Children's and the study's lead investigator.

Ahmed says that a protein, called CIB2, which binds to calcium within a cell, is associated with deafness in Usher syndrome type 1 and non-syndromic hearing loss. "To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan," he says, according to a Cincinnati statement.

"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed says.


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