Rodent of the Week: Is autism a disease of synaptic function?

The synapses are areas in the brain that permit messages to travel from cell to cell through chemicals called neurotransmitters. A study published this week suggests that autism may caused by faulty synapses.

The new study was launched with the knowledge that some genes seem to contribute to autism, including a gene called shank3 that is found in the synapses. Researchers led by Guoping Feng, a professor of brain and cognitive sciences at the McGovern Institute for Brain Research at MIT, decided to test the concept that autism may be caused by dysfunctional synapses. By mutating just the shank3 gene, they were able to produce mice that possessed two key autism traits: compulsive, repetitive behavior and avoidance of social interaction.

“They’re just not interested in interacting with other mice,” Feng said in a news release.

Developing an autistic mouse is an important step in research because doctors can now study the specific neural circuits that seem to be involved in the behaviors. Moreover, the mouse model allows for testing drugs before trying them on human patients.

Not every person with autism has a shank3 mutation, the study’s authors noted. However, it’s possible that other gene mutations found in people with autism impair synaptic function. If future studies verify that autism is a problem of faulty synapses, then medications that restore synaptic function may help resolve some symptoms.

The study was published Sunday in the journal Nature.

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