Mouse Model of Autism Offers Insights to Human Patients, Potential Drug Targets

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DURHAM, N.C. -- A new mouse model of a genetically-linked type of autism reveals more about the role of genes in the disorder and the underlying brain changes associated with autism’s social and learning problems.
Scientists at Duke Health who developed the new model also discovered that targeting a brain receptor in mice with this type of autism could ease repetitive behaviors and improve learning in some animals.
Their report, published May 10 in the journal Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror autism caused by mutations to the SHANK3 gene, Duke researchers are the first to create a mouse in which that gene has been completely eliminated.
The total “knockout” of the gene makes the model more effective for studying SHANK3-related autism and Phelan-McDermid syndrome in humans, many of whom are missing the gene completely, said senior author Yong-hui Jiang, M.D., Ph.D., an associate professor of pediatrics and neurobiology
“This is an important first step in understanding the process of the disorder in humans,” Jiang said. “For many families affected by autism, this is something that could provide hope and potentially lead to a treatment.”
SHANK3 is essential to the function of synapses in the brain and communication ...

Source: DukeHealth.org: Duke Health Features - May 10, 2016 Category: Pediatrics Tags: Duke Medicine Source Type: news