MNT: New Insights Into Autism Revealed By Research On Rare Bone Disorder

Children with multiple hereditary exostoses (MHE), an inherited genetic disease, suffer from multiple growths on their bones that cause pain and disfigurement. But beyond the physical symptoms of this condition, some parents have long observed that their children with MHE also experience autism-like social problems. Buoyed by the support of these parents, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) used a mouse model of MHE to investigate cognitive function. They found that mice with a genetic defect that models human MHE show symptoms that meet the three defining characteristics of autism: social impairment, language deficits, and repetitive behavior. The study, published online the week of March 12 in the Proceedings of the National Academy of Sciences USA, also defines the molecular and physiological basis of this behavior, pinpointing the amygdala as the region of the brain causing autistic symptoms.

"There is growing evidence that many autistic people have related genetic defects, or defects that are exacerbated by this one," said Yu Yamaguchi, M.D., Ph.D., professor in the Sanford Children's Health Research Center at Sanford-Burnham." Yamaguchi led this study, along with colleagues Fumitoshi Irie, Ph.D. and Hedieh Badie-Mahdavi, Ph.D.

Measuring social behavior in mice

In humans, MHE is caused by a mutation in one of two genes, Ext1 or Ext2. Together, these genes encode an enzyme necessary to produce heparan sulfate - a long sugar chain that helps bone cells grow and proliferate. In this study, Yamaguchi and his team used mice that lack the Ext1 gene in just a certain type of neuron to understand the mechanism of social problems in MHE patients...

...the whole article you can read on