Genetic Mutation in the Hippocampus that Contributes to Autism

Additional Funding Sources

This project was funded in part by the Beckman Scholars Program at the University of Idaho with support from the Arnold and Mabel Beckman Foundation.

Abstract

Genetic factors have been found to contribute to Autism Spectrum Disorder (ASD), a developmental disability characterized by sensory and communication deficits, but treatment currently involves therapy and antipsychotic medications. Finding a model for treatment of gene mutations associated with ASD can assist in the development of novel forms of treatment for patients diagnosed with these genetic mutations. One gene of interest is Down Syndrome Cell Adhesion Molecule (Dscam), which functions in neural development. Dscam has been studied in mice, but most studies have been done in the retina. Dscam is also expressed in hippocampal neurons important to learning and memory, and analysis of the structure in the hippocampus of Dscam mutant mice can allow for a comparison between mouse brains and brains of people with Dscam mutations to determine if mice will make a good model to test clinical interventions for ASD treatment. Mouse brains are analyzed using staining for expression to compare the hippocampus in mutant and non-mutant mice. Preliminary results have shown defects in Dscam mutant mouse brains, and we aim to analyze the brain regions that are affected to better understand DSCAM protein’s impact on brain function and development.

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Genetic Mutation in the Hippocampus that Contributes to Autism

Genetic factors have been found to contribute to Autism Spectrum Disorder (ASD), a developmental disability characterized by sensory and communication deficits, but treatment currently involves therapy and antipsychotic medications. Finding a model for treatment of gene mutations associated with ASD can assist in the development of novel forms of treatment for patients diagnosed with these genetic mutations. One gene of interest is Down Syndrome Cell Adhesion Molecule (Dscam), which functions in neural development. Dscam has been studied in mice, but most studies have been done in the retina. Dscam is also expressed in hippocampal neurons important to learning and memory, and analysis of the structure in the hippocampus of Dscam mutant mice can allow for a comparison between mouse brains and brains of people with Dscam mutations to determine if mice will make a good model to test clinical interventions for ASD treatment. Mouse brains are analyzed using staining for expression to compare the hippocampus in mutant and non-mutant mice. Preliminary results have shown defects in Dscam mutant mouse brains, and we aim to analyze the brain regions that are affected to better understand DSCAM protein’s impact on brain function and development.