Gene Mutations Involved in Brain Development and Autism Spectrum Disorders
Additional Funding Sources
The project described was supported by the Arnold and Mabel Beckman Foundation through a Beckman Scholars Program award to the University of Idaho.
Abstract
Genetic factors have been found to contribute to Autism Spectrum Disorder (ASD), a developmental disability characterized by sensory and communication deficits, but current treatment only involves therapy and antipsychotic medications. Finding a model of gene mutations associated with ASD can assist in the development of novel forms of treatment for patients diagnosed with these genetic mutations. Down Syndrome Cell Adhesion Molecule Like-1 (DSCAML1) has been previously studied in mice to have significant effects on developing mouse retinas, but these studies have not extended into other regions of the brain where Dscaml1 is expressed. Initial analyses using expression staining on loss of function Dscaml1 mice has suggested that the superior colliculus and the hippocampus show variation in expression compared to wild type mice. The superior colliculus is involved with sensory processing of visual information, and the hippocampus functions in learning and memory. Comparison of the superior colliculus, the hippocampus, and more regions of the brain that are affected between these mutant mice and people with Dscaml1 mutations may allow for better understanding of DSCAML1’s impact on brain function and development to determine if mice will make a good model to test clinical interventions for ASD treatment.
Gene Mutations Involved in Brain Development and Autism Spectrum Disorders
Genetic factors have been found to contribute to Autism Spectrum Disorder (ASD), a developmental disability characterized by sensory and communication deficits, but current treatment only involves therapy and antipsychotic medications. Finding a model of gene mutations associated with ASD can assist in the development of novel forms of treatment for patients diagnosed with these genetic mutations. Down Syndrome Cell Adhesion Molecule Like-1 (DSCAML1) has been previously studied in mice to have significant effects on developing mouse retinas, but these studies have not extended into other regions of the brain where Dscaml1 is expressed. Initial analyses using expression staining on loss of function Dscaml1 mice has suggested that the superior colliculus and the hippocampus show variation in expression compared to wild type mice. The superior colliculus is involved with sensory processing of visual information, and the hippocampus functions in learning and memory. Comparison of the superior colliculus, the hippocampus, and more regions of the brain that are affected between these mutant mice and people with Dscaml1 mutations may allow for better understanding of DSCAML1’s impact on brain function and development to determine if mice will make a good model to test clinical interventions for ASD treatment.
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