The USH1C gene encodes the protein harmonin which organizes protein networks in the retina and inner ear. In the study, researchers found that harmonin plays a crucial role in the canonical Wnt signaling pathway, which is important for maintaining the health and function of the eye and retina. The study found that without the harmonin protein functioning properly, this pathway is disrupted, which can lead to the development of retinal diseases and vision impairment.
What this means for Usher syndrome: This discovery is significant because it sheds light on the underlying mechanisms of Usher syndrome and could lead to the development of new treatments and therapies for this rare disorder. It also helps with a better understanding of the role Wnt signaling plays in the eye and retina and how it can contribute to retinal diseases.
