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X‐linked retinoschisis, an early‐onset macular degenerative disease occurring primarily in young boys, can result in blindness. As many as two hundred different mutations on the X chromosome can lead to a malformation of retinoschisin, a structural protein which normally holds the photoreceptors and bipolar cells together. The photoreceptors detect light, and bipolar cells process these stimuli for interpretation by the brain. An improperly folded retinoschisin prevents the photoreceptors and bipolar cells from interacting and prevents information from being transmitted to the brain. Retinoschisin is composed of sixteen subunits arranged in a double octomer. Because retinoschisin relies on extensive interactions between subunits, many different mutations can lead to a dysfunctional protein. The C110 and C142 bonds stabilize the spikes protruding from the discoid fold—the part of the protein that allows the retinoschisin to bind to the retinal cells. Mutations in these residues lead to the inability of the protein binding to retinal cells. Since the retinoschisin cannot attach to the retinal cells, the retina begins to split and causes eventual blindness. In order to further understand the structure and function of this protein, the Divine Savior Holy Angels SMART (Students Modeling a Research Topic) team modeled retinoschisin using 3D printing technology. Although no cure exists, current research is focusing on the structure of retinoschisin, and how mutations prevent adhesion between retinal cells with an ultimate goal of developing a gene therapy. By correcting the mutated X chromosome segment, retinoschisis could be prevented.Support or Funding InformationMunzenmaier, Dr. Diane <munzenmaier@msoe.edu>This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

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