Mutations in the genes CIB2 and ADGRV1 have been described as causative for Usher syndrome subtypes USH1J and USH2C, respectively. The researchers set out to identify how these proteins function and found that these proteins work together in common pathways. Further investigation showed these proteins interact together in light-sensitive cells in the retina.
What this means for Usher syndrome: This study expands our understanding of the function of molecules associated with Usher syndrome. This information may help researchers identify possible targets for the development of treatments.
