Researchers Link Gene to Form of Autism

Duke University researchers have identified a gene that may play a major role in producing autism in a subset of autistic children.

The gene, which is the blueprint for a protein called gamma-amino-butyric acid receptor beta-3-subunit, was suspected to be involved in autism, but it had never been definitively linked to the disorder.

The search for autism genes has been difficult, at least in part because the disorder encompasses a broad spectrum of symptoms and disabilities.

Geneticist Margaret Pericak-Vance and her colleagues decided to narrow the search by focusing on a subgroup of autistic children who exhibit repetitive compulsions and have extreme difficulty with changes to their daily routine. This character trait was identified by psychologist Michael Cuccaro as “insistence on sameness,” or IS.

When the team studied the genetics of only those families whose children scored high in the IS category, they discovered a strong link to the gene where no such link had appeared before.

Identification of a gene that plays a role in autism could lead to new ways of treating and preventing the disorder. The Duke team’s report will be published in the March issue of the American Journal of Human Genetics.