Scientists Find Connection Between Gene Mutation and Key Symptoms of Autism

Scientists have shown that mutations in a gene that is disrupted in some individuals with autism results in too much growth throughout the brain, yet surprisingly, specific problems in social interactions, at least in mouse models that mimic this risk factor in humans.
“What was striking is that these were basically normal animals in terms of behavior, but there were consistent deficits in tests of social interaction and recognition, which approximate a major symptom of autism,” said Damon Page, a TSRI biologist who led the study.
“This suggests that when most parts of the brain are overgrown, the brain somehow adapts to it with minimal effects on behavior in general. However, brain circuits relevant to social behavior are more vulnerable or less able to tolerate this overgrowth.”
The study, which focuses on the gene phosphatase and tensin homolog (PTEN), was recently published online ahead of print by the journal Human Molecular Genetics.
Autism spectrum disorder is a neurodevelopmental disorder involving a range of symptoms and disabilities involving social deficits and communication difficulties, repetitive behaviors and interests, and sometimes cognitive delays.
The disorder affects in approximately one percent of the population; some 80 percent of those diagnosed are male.