A new study reveals a mechanistic link between zinc levels in fetal development, genes and abnormal neural connections associated with autism.
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.
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.
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 technology, researchers target the Shank3 gene in monkey embryos. Research backs previous findings of the importance of the Shank3 gene for brain development and its role in autism.
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.
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.
A new study reports a gene mutation linked to autism also plays a critical role when it comes to the formation and maturation of synapses.
Researchers have developed a new treatment that could potentially be used to treat patients with the Phelan-McDermid syndrome autism subtype.
