The findings will be reported Wednesday October 20 to the annual meeting of the American Society of Human Genetics in San Francisco. The mutation, a deletion of a single nucleic acid, occurs in the gene responsible for connexin 26, a protein crucial to communication between cells, including cells within the inner ear. The protein makes the infinitesimally small gap junctions in cell membranes that allow molecules to pass through to adjacent cells. In the inner ear, gap junctions play an important role in the physiology of hearing. Auditory signals emanating from hair cells deep within inner ear canals depend upon the flow of potassium.
Gap junctions allow potassium to flow from hair cells to neighboring cells.
As hair cells are the first to respond to sound vibrations, a connexin mutation that interferes with efficient potassium transport could result in a hearing loss. UNC is a leader in the treatment of hearing loss in children. It is also a center for cochlear implant surgery. These devices help restore auditory input. But some youngsters do not benefit from them as much as others.