Research: “Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission & Behavioral Deficits”

SHANK3 is a gene that assists neurotransmitter connection, synapse formation, and dendrite spine maturation. The autism-associated insertion mutation (InsG) of SHANK3 exon 21 was found in two brothers with clinically identical cases of autism spectrum disorder (ASD), but not in their normally developing brother. This discovery from the University of Texas Southwestern Medical Center suggests that InsG could be a potential cause to certain cases ASD. In a study that recreated InsG in mice, those with the InsG had impaired motor learning and coordination, consistent with the sibling’s symptoms. The group of the InsG mice were then given Tamoxifen while the control group were given a normal diet. The Tamoxifen induced a SHANK3 knock in, causing new segments of SHANK3 to form. As new SHANK3 was synthesized the mice also gained increased motor learning and coordination abilities. The effect of the Tamoxifen on the symptoms of the InsG demonstrated the potential for use as a therapeutic agent.