Unravelling Genetic Determinants of Synaptic Formation in the Mammalian Visual System
Additional Funding Sources
The project described was supported by a student grant from the UI Office of Undergraduate Research. This research project was also funded in part by a University of Idaho Honors Program Grant for Undergraduate Research and Creative Scholarship.
Abstract
Blinding diseases such as age-macular degeneration and glaucoma are common causes of vision loss and occur in 2-15% of the population. A detailed understanding of visual system organization is a limiting factor in developing treatments for such disorders. Genetic blinding diseases are studied to understand visual system organization and diseases. Stationary night blindness, is caused by mutation in the Dscaml1 gene. Dscaml1 encodes for the protein, Down Syndrome Cell Adhesion Molecule-like 1 (DSCAML1), which plays a role in organization of cells critical for night vision. In a previous study we used electron micrographs to visualize the cellular organization of rod bipolar cells (RBCs) in the synaptic pathway within the mouse retina, an accessible model for human diseases. We found an increased number of dendrite terminals that do not contact rod photoreceptors in the absence of DSCAML1. This project focuses on using immunohistochemical (IHC) techniques to compare the development of the synaptic pathway at multiple post-natal time points in three genotypes. It is predicted that the loss of DSCAML1 results in termination of the pathway between the RBCs and dendrites instead of a delay in formation. This study is intended to guide clinicians seeking interventions for people with similar disorders.
Unravelling Genetic Determinants of Synaptic Formation in the Mammalian Visual System
Blinding diseases such as age-macular degeneration and glaucoma are common causes of vision loss and occur in 2-15% of the population. A detailed understanding of visual system organization is a limiting factor in developing treatments for such disorders. Genetic blinding diseases are studied to understand visual system organization and diseases. Stationary night blindness, is caused by mutation in the Dscaml1 gene. Dscaml1 encodes for the protein, Down Syndrome Cell Adhesion Molecule-like 1 (DSCAML1), which plays a role in organization of cells critical for night vision. In a previous study we used electron micrographs to visualize the cellular organization of rod bipolar cells (RBCs) in the synaptic pathway within the mouse retina, an accessible model for human diseases. We found an increased number of dendrite terminals that do not contact rod photoreceptors in the absence of DSCAML1. This project focuses on using immunohistochemical (IHC) techniques to compare the development of the synaptic pathway at multiple post-natal time points in three genotypes. It is predicted that the loss of DSCAML1 results in termination of the pathway between the RBCs and dendrites instead of a delay in formation. This study is intended to guide clinicians seeking interventions for people with similar disorders.
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