Professor Uwe Wolfrum of the Institute of Molecular Physiology at Johannes Gutenberg University Mainz and Professor Reinhard Lührmann at the Max Planck Institute for Biophysical Chemistry in Göttingen have identified a new pathway that leads to Usher syndrome (USH). Individuals with USH have deterioration of their light-sensitive photoreceptor cells in their eyes. Currently, there are no existing treatments for the associated blindness of individuals with USH. These researchers are looking at the USH1G protein, which is also known as SANS. Wolfrum’s team had already established that SANS is a scaffold protein. Mutations in this gene cause cells in the ear and eye not to work properly. But recent research from Adem Yildirim in his PhD thesis showed that SANS also works to help pre-mRNA splicing. Splicing is part of the process that turns genes into proteins. Parts of the pre-mRNA are cut out and what is left over is used to make proteins. SANS was found to aid in the splicing process. Mutations in the SANS gene prevents splicing from happening correctly which leads to proteins not being created properly.
What this means for Usher syndrome: These researchers have identified a new pathway that leads to Usher syndrome. Identifying this new pathway gives researchers the opportunities to develop treatments for individuals that are targeted to this mutation and specific to their type of Usher syndrome.