USH2A is the most common type of Usher syndrome. Researchers created a mouse model of USH2A that contains the c.2290delG mutation in the protein usherin, which is the mouse equivalent of the c.2299delG mutation in humans. This mutation results in a truncated usherin protein that is found in the wrong location in cells. This improper location of the incomplete protein causes stereocilia bundles (which turn the physical force from sound, gravity, and movement into electrical signals) to become disorganized in hair cells of the inner ear. This mouse model may help determine how hearing is lost in USH2A and develop new therapies for USH2A patients.
What this means for Usher syndrome: Having an animal model is an important step in research for Usher syndrome. Understanding how a mutation causes hearing loss in this mouse model could help researchers discover potential therapies that can help USH2A patients with hearing loss.