A genetic link to deafness has been discovered. Researchers say that the discovery could pave the way for newer therapies that would help people who are at risk for a type of deafness called Usher syndrome type 1.
Usher Syndrome is a condition where the person suffers from progressive hearing and vision loss. People born with Usher Syndrome 1 are either born deaf or lose the ability to hear within their first year. After a few years, these children have vision loss and problems balancing and causing delays in learning how to sit up or walk.
"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," says lead author Zubair Ahmed, PhD, assistant professor of ophthalmology who conducts research at Cincinnati Children's Hospital Medical Center.
According to previous research, a protein called CIB2 is associated with the syndrome. The protein binds to calcium within the cell.
"To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan. However, we have also found another mutation of the protein that contributes to deafness in Turkish populations," he said in a press release.
Studies conducted on animals have found that the protein is present in hair cells of the inner ear that respond to motion and help with balance. This protein is also present in cells that convert light energy into electrical energy, thus helping in vision, said co-lead investigator Saima Riazuddin, assistant professor at the University of Cincinnati.
"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed said in a news release.
The study was published in the journal Nature Genetics.