Investigating the effects of genetic abnormalities associated with autism and human brain development, researchers found brain organoids engineered to have lower levels of the ASD-associated SHANK3 gene had distinct features including neural firing hyperactivity, disruptions in pathways that cause cells to adhere to each other, and indications of ineffective neurotransmission.
Researchers have identified a mechanism shared by mutations in the SHANK3 and ADNP genes. The genes have been associated with the development of ASD and schizophrenia.
Exposing mice with the autism-associated SHANK3 genetic mutation to new environments can trigger autism-like behaviors, including repetitive movements and problems with social engagement. However, adding familiar objects to the novel environment during the first exposure can reduce the behavioral and brain signaling deficits.
Inducing massive inflammation resulted in an overexpression of Trpv4. The overexpression led to neural hyperexcitability that resulted in social avoidance behaviors associated with ASD in mouse models.
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.