SHANK3 is a gene that assists neurotransmitter connection, synapse formation, and dendrite spine maturation, heavily concentrated in the hippocampus. The hippocampus is involved in long-term potentiation (LTP), a process known to be affected by autism spectrum disorder (ASD). After investigating the link between SHANK3, ASD, and the hippocampus, it was found by researchers at the Seaver Autism Center at Mount Sinai that SHANK3 knockout mice had significantly greater amounts of perforated synapses than the control group. This was the only significant morphological difference between the experimental and control group which suggests that specific types of mutations within SHANK3 may cause specific brain morphology differences implicated in ASD, while full deletion of SHANK3 does not cause many changes to brain morphology.
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