SERT Ala56 impacts the structure of the SERT protein cells, increasing the activity of the transporter to abnormally high levels. The high-activity state results in the removal of too much serotonin from brain sites where serotonin is needed, both during development and in adults.
Mice lacking the autism-associated SHANK3 gene were more sensitive to sensation, including touch. The mice also had overactive excitatory neurons in the somatosensory cortex, which may account for sensory hypersensitivity.
Immune molecules produced during infection influence the social behaviors of mouse models of autism spectrum disorder. The findings may shed light on why some children on the autism spectrum experience a temporary reduction in behavioral symptoms when they have a fever.
Isoguavacine, an old experimental compound which exclusively targets peripheral neurons, mitigates abnormal touch sensitivity in mouse models of ASD. The compound also improved body mass, reduces anxiety, and in one genetic subset of mice, prevented the development of brain abnormalities that arise from altered touch response.
The anterior cingulate cortex (ACC) plays a critical role in regulating social behaviors. In mouse models of ASD, dysfunction in the ACC was linked to social impairments associated with the disorder.
Using CRISPR gene editing, researchers introduce the SHANK3 gene variant into macaque monkeys. SHANK3 has previously been linked to autism in humans. The monkeys with the SHANK3 mutations exhibited behavioral traits and brain activity patterns similar to those seen in humans on the autism spectrum, Researchers hope the new model will facilitate new avenues of research for ASD.
A deficiency of the SHANK3 gene, a gene associated with ASD, results in structural and functional deficits in the prefrontal cortex. The functional and structural alterations in the PFC were linked to an impairment in social interaction in male mice.
Deficiencies in the SHANK3 gene have been linked to sleep disruptions in both mouse models and people with ASD. Researchers found patients with Phelan-McDermid syndrome, a genetic disorder associated with autism, report trouble falling, and staying asleep. In mouse models, animals lacking the SHANK3 gene had a reduction in deep sleep quality and spent more time awake when other mice were sleeping.