Researchers Develop Mouse Model to Help Find How a Gene Mutation Leads to Autism

[Elmore Furth]

A gene thought to be involved in the genesis of some types of autism has been modified in a mouse model.

ScienceDaily (Dec. 18, 2010) — Researchers from Mount Sinai School of Medicine have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders (ASDs).

"We know that SHANK3 mutation plays a central, causative role in some forms of autism spectrum disorders, but wanted to learn more about how it does this," said Joseph Buxbaum, PhD, Director of the Seaver Autism Center and Professor of Psychiatry, Neuroscience and Genetics and Genomic Sciences at Mount Sinai School of Medicine. "These data provide critical insight into the mechanism behind the development of the cognitive and social changes associated with autism."

Previous research has shown that gene mutation in SHANK3 is associated with delayed language abilities, learning disability, and ASDs. A team of researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine and the Intramural Research Program of the National Institute of Mental Health wanted to better understand the connection between the SHANK3 mutation and subsequent brain and behavioral difficulties. They examined mice genetically engineered to lack one copy of SHANK3, similar to patients who have a mutation in one copy of SHANK3, and compared the nerve cell activity of these mice with that of mice in a control group that did not have the mutation. They also examined social behaviors in these mice.

Researchers Develop Mouse Model to Help Find How a Gene Mutation Leads to Autism

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