Washington, October 1 (ANI): Researchers have discovered a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1. These findings could help researchers develop new therapeutic targets for those at risk for this syndrome. For the study, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center work together with the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky. Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina. "In this study, 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," said Zubair Ahmed, PhD, assistant professor of ophthalmology who conducts research at Cincinnati Children's and is the lead investigator on this study. Ahmed stated 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 … Continue reading
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