Research: “Altered striatal synaptic function and abnormal behaviour in Shank3 Exon4-9 deletion mouse model of autism”

People with a mutated SHANK3 gene often present with delayed or impaired speech, as well as Obsessive Compulsive Disorder-like behaviors; additionally, the SHANK3 mutation is present in some cases of Autism Spectrum Disorder (ASD).The SHANK3 gene assists in neurotransmitter connection, synapse formation, and dendrite spine maturation. In this study by researchers at the University of Texas Southwestern Medical Center, to examine how brain functioning is altered in a way that may lead to ASD, the SHANK3 gene was deleted from a specific region (exon 4-9) of rats’ brains. When evaluated, scientists found that these rats behaviorally: repetitively groomed themselves; had weakened ability to recognize and remember novel and spatial objects; had ultrasonic vocalizations; and socialized abnormally when paired together. Additionally, scientists found that removing the SHANK3 gene from this particular area of the brain reduces levels of SHANK3 in other areas of the brain, as well.