Researchers find mutation for deafness

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CINCINNATI, Sept. 30 (UPI) -- A genetic analysis of 57 people from Pakistan and Turkey found a mutation for deafness and hearing loss linked to Usher syndrome type 1, researchers say.

Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision.

"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," lead investigator Zubair Ahmed, an assistant professor of ophthalmology at the University of Cincinnati, said in a statement.

"In animal models, CIB2 is found in the mechanosensory stereocilia of the inner ear -- hair cells, which respond to fluid motion and allow hearing and balance -- and in retinal photoreceptor cells, which convert light into electrical signals in the eye, making it possible to see," Saima Riazuddin, also an assistant professor at the university, said in a statement.

The study by Ahmed, Riazuddin and colleagues at the university, Cincinnati Children's Hospital Medical Center, the National Institute on Deafness and other Communication Disorders, Baylor College of Medicine and the University of Kentucky, found that CIB2 might be involved in calcium signaling that regulates mechanoelectrical transduction, a process by which the ear converts mechanical energy -- or energy of motion -- into a form of energy the brain can recognize as sound.

Their findings were published in the journal Nature Genetics.