Characterization of retinoschisin, the protein involved in X-linked juvenile retinoschisis

Principal Investigator: 
University: 
University of British Columbia
Award Type: 

X-linked retinoschisis is the most common form of retina damage in young males. Symptoms of the genetic disease include splitting of the retina's inner layers, blood vessel rupturing and sometimes blindness. It is often undiagnosed or misdiagnosed due to diverse changes in the retina that can occur. Winco Wu is investigating the nature of the retinoschisin protein, produced by the gene that causes the disease. He is selectively examining mutations of retinoschisin and determining the protein's exact size, whether it binds to other molecules, and how it interacts with other proteins and its own subunits. Improving understanding of retinoschisin will further knowledge of how retina deterioration occurs, and may ultimately lead to therapies for diseases such as X-linked retinoschisis. Learning about the protein will also shed light about proteins with similar characteristics that are involved in cancer and nervous system development.

Research Pillar: 
Host Institution: 
University of British Columbia
Research Location: 
University of British Columbia - Point Grey
Co-Supervisor: 
Robert Molday
Year: 
2001