March 4, 2013

Gene ‘dose’ may be key to autism

Individuals with overexpression of the gene MECP2 have core features of autism spectrum disorder.


Overexpression of a gene involved in the regulation of anxiety and social behavior may be “fundamentally related” to the core social features of autism spectrum disorder (ASD), researchers at Vanderbilt University and Baylor College of Medicine have reported.

Clearly defining how this condition, called MECP2 duplication syndrome, differs from autism that is “idiopathic” or has no known cause will improve early diagnosis and could lead to novel therapeutic strategies, Sarika Peters, Ph.D., assistant professor of Pediatrics, and colleagues concluded. Their findings were published in the February issue of Autism Research.

ASD is characterized by deficits in social interaction and communication, and by restricted and repetitive behaviors. Peters and colleagues compared 10 boys with MECP2 duplication syndrome to nine non-verbal boys with idiopathic ASD. While the first group seemed to have reduced sensitivity to pain and temperature, both groups exhibited similar “core” autistic behaviors. The data suggest that the MeCP2 protein may have an important role in ‘normal’ social development, as well as modulation of pain/sensory sensitivity.

The research was supported in part by grants from the National Institutes of Health (HD015052, NS062711).