Gene Involved in Hearing Loss Found

Researchers say they've found the gene resposible for a rare and progressive form of hearing loss in boys that could pave the way for treament of other forms of deafness. The gene is called PRPS1 and it appears to be crucial in inner ear development and maintenance. There are four mutations associated with the gene which have been linked to disorders like Arts syndrome and a form of Charcot-Marie Tooth disease. The mutations cause a decrease in the production of a protein that results in defects in hair cells in the inner ear, and eventually leads to progressive deafness. Scientists are now looking at potential enzyme replacement therapies to either restore hearing or prevent further hearing loss in boys with the disease. Funding for the international study came from the National Institute on Deafness and Other Communication Disorder. Details are in the American Journal of Human Genetics. More information here.