Research: “Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model for Autism Spectrum Disorder”

Currently, the etiology of autism spectrum disorder (ASD) is unclear, and therefore no appropriate “cure” exists. Gene mutations have been found to play a role in the onset of ASD. Mouse models are useful and reliable in studying the cause of disorders such as ASD. The mice strain, Brachury (BTBR) displays a behavioral phenotype very similar to that of ASD. For instance, BTBR mice display behavioral deficits in social functioning, lack of communication ability, and engagement in stereotypic behavior. Although this behavior has been characterized in BTBR mice, the genes and proteins specifically responsible for this ASD-like behavior are unknown. This study focuses on identifying transcriptomic and proteomic brain alterations underlying ASD behavior observed in BTBR mice. Through the use of bioinformatics techniques, researchers at the National Institutes of Health and the University of Antwerp found that in comparison to control mouse models, BTBR mice had various altered genes and proteins (BDNF, Shank3, ERK1, and Caskin1). Additionally, this study identified some distinct altered functional pathways in the ASD-like mice, as compared to the controls. This study emphasizes the importance of bioinformatics as a tool towards further uncovering the biological cause of ASD for the development of novel therapeutic targets.