Academics

Summary

Differential synaptic transmission has been linked with phenotypic differences associated with autism spectrum disorder (ASD), especially sensory and motor abnormalities (Orefice et al., 2019; Schaffler et al., 2019; Vyas et al., 2021). Shank genes are multidomain scaffolding proteins expressed in both the central nervous system (CNS) and peripheral nervous system (PNS). Shanks are involved in the organizational efforts of the postsynaptic density concerning the development, function, and maturation of synapses (Jung and Park, 2022; Raab et al., 2010). The distinct role of Shank genes within the neural process of synaptic transmission is under-researched in the context of the PNS. While a specific candidate gene, Shank3, is linked with susceptibility to developing autism (Mashayekhi et al., 2021), the role of Shank genes in differential PNS synaptic transmission, and especially how Shank3 expressed in the PNS differentially contributes to ASD phenotypes caused by PNS synaptic dysfunction, is not well-understood. Comparison of synaptic electrical activity and observable behavioral, sensory, and motor differences between wild type and PNS- and CNS-specific Shank3 loss-of-function mouse models will allow for understanding of how disrupted Shank functioning contributes to sensory and motor deficits via mechanisms of dysfunctional peripheral synaptic transmission. New insights into how PNS disease mechanisms influence behavior, information processing, and quality of life for ASD patients is essential and can build upon prior research performed with Shank genes in the central nervous system. 

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