Gene Mutation Tied to Autism

Scientists Plan to Study the Mutation in Mice to Learn More About Autism Spectrum Disorders

From the WebMD Archives

Sept. 6, 2007 -- Scientists today announced that they've found a new way to study a gene mutation linked to autism.

The researchers report that they have genetically engineered mice with a genetic mutation seen in some people with autism spectrum disorders.

The mutation involves a portion of a gene that makes a protein called neuroligin-3, which helps nerve cells communicate with each other.

The researchers found that mice with the neuroligin-3 gene mutation were less social than mice without that mutation. The mutated mice were also speedier at navigating a watery maze.

Obviously, mice are very different from people. But the mutated mice "may be a useful model for studying autism-related behaviors," write Thomas Sudhof, MD, and colleagues in today's edition of Science Express.

Sudhof, a molecular genetics professor at the University of Texas Southwestern Medical Center at Dallas, notes that the mice didn't have structural problems in the brain.

"What sets this mouse model apart is that the mouse shows highly selective social deficits and memory enhancement, but as far as we can tell, no other pathologies. This makes it a potentially useful model for a subset of people with autism spectrum disorders with just such characteristics," Sudhof states in a news release.

Sudhof's team isn't arguing that the mutation they studied is solely responsible for autism.

In fact, other autism gene researchers have suggested that autism may be influenced by 100 or more different genes.

Although researchers haven't pinned down all of the genetic or environmental influences on autism, they may have a new way to study autism in lab mice, Sudholf's study shows.

WebMD Health News Reviewed by Louise Chang, MD on September 06, 2007


SOURCES: Tabuchi, K. Science, Sept. 6, 2007; online "Science Express" edition. WebMD Medical Reference: "Understanding Autism -- the Basics." WebMD Medical News: "Many Gene Glitches May Up Autism Risk." News release, Howard Hughes Medical Institute.

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