WASHINGTON, Oct. 1 (Xinhua) -- A team of researchers from multiple U.S. institutions have identified a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1, according to a study to be published in November issue of Nature Genetics.
The gene, a calcium and integrin binding protein 2 (CIB2), is on chromosome 15. The researchers determined that CIB2 is a common protein influencing intracellular calcium responses during conversion of light and sound into electrical signals.
The findings could help researchers develop new therapeutic targets for those at risk for this syndrome.
Usher syndrome is a hereditary disease in which affected individuals lose both hearing and vision. The impact of Usher syndrome can be devastating. In the United States, approximately six in every 100,000 babies born have Usher syndrome.
Several genes associated with different types of Usher syndrome have been identified. Most of these genes encode common structural and motor proteins that build sensory cells in the eye and inner ear.
|
