Gene deficiency may be related to autism

From UPI:

STANFORD, Calif. -- U.S. scientists say they've discovered how the absence of a gene associated with autism and schizophrenia influences the behavior of mice.

Stanford University Professor Thomas Sudhof and graduate student Mark Etherton examined the physiology and behavior of mice lacking a gene that makes a specific protein. The deletion of that gene occurs in 0.5 percent of people with autism but never in healthy people.

Sudhof said the researchers decided to see whether the genetic deficiency led to any changes in communication between neurons and, if so, whether the disrupted or altered communication was correlated with any observable behavioral abnormalities associated with human cognitive disorders, such as autism or schizophrenia.

He said they found mice with the genetic deficiency had a defect in certain synapses, but not in others. And mice with the genetic defect exhibited behavioral impairments similar to those observed in those suffering autism or schizophrenia.

The investigators have received a National Institutes of Hearth grant to examine the effects of 81 additional genes associated with autism and schizophrenia.

The study appears in the online early edition of the Proceedings of the National Academy of Sciences.