A team of researchers at the University of Texas' Southwestern Medical Center has genetically engineered mice with a genetic mutation that has been found in some people with autism. These mice may offer researchers a new means for studying how specific defects in brain development might lead to autism.
"This is the first time a mutation found in patients with autism that is not part of a known genetic syndrome has been re-created in a mouse," explained Sophia Colamarino, Ph.D., vice president of research for Autism Speaks. "These mice will become a very important tool for autism researchers. Ultimately they may even provide us with a model system for testing treatment approaches."
Thomas Südhof and his colleagues at the University of Texas Southwestern Medical Center published their findings September 6, 2007, in Science Express, which provides electronic publication of selected important Science papers ahead of print.
The mice have a mutation in the gene for a protein called neuroligin-3, which operates as a cell adhesion molecule in synapses. This gene has previously been found to be mutated in a few individuals with autism. Dr. Colamarino emphasized that "although the number of autism cases caused by mutations in the Neuroligin-3 gene may not be many, studying the function of the mutated neuroligin-3 protein is essential to understanding the underlying biological mechanisms that actually create autism."
The research was supported in part by a grant from Autism Speaks.