SHANK3 is a synaptic scaffolding protein and plays an important role in neuronal
development. SHANK3 interacts with various synaptic molecules, including post-synaptic density-95
(PSD-95), homer and GluR1 AMPA receptor. SHANK3 gene is a causable gene of the Phelan-
McDermid syndrome (also known as the 22q13.3 deletion syndrome), whose manifestation is global
developmental delay and autistic behavior, especially shows severe speech and language deficit.
Additionally since cumulative gene analysis in autistic subjects identified several mutations in
SHANK3 gene, including deletion and duplication in a particular region, abnormality of SHANK3
gene is thought the be related with the neuropathology of autism spectrum disorder (ASD). We here review the recent
findings in regard to the roles of SHANK3 in higher brain functions, molecular-biologic studies of the complex
expression of Shank3 transcripts and production of SHANK3 isoforms, and behavioral studies of Shank3-mutant mice,
including our recent findings, and discuss a novel therapeutic approach for ASD.
Keywords: Autism spectrum disorder, cytokine, microglia, Phelan-McDermid syndrome, SHANK3, synapse.
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