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Thursday, July 12, 2012

Purkinje cells, Autism and Rapamycin

One Gene, One Drug Affect Autism Behaviors in Mouse Model | Science News | Autism Speaks

Harvard researchers found that deleting one gene in certain brain cells causes autism behaviors in mice. They also discovered that treating the mice with rapamycin, an immunosuppressant drug, prevents the symptoms. Autism Speaks partially funded the study, published this month in the journal Nature. 
The findings represent an important step in figuring out brain pathways that cause autism, explains the study’s senior author, Mustafa Sahin, Ph.D., associate professor of neurology at Harvard University. It also represents a very early step in determining whether rapamycin or drugs like it can help individuals with autism. 
Past research has associated autism with certain brain cells in the cerebellum, a region involved in coordinating brain activity. These cells, called Purkinje cells, play an essential role in normal brain function. Studies using post-mortem tissue show that many individuals with autism have fewer of these cells than is normal. 
Dr. Sahin and his team wanted to better understand the link between Purkinje cells and autism. They deleted one gene in the Purkinje cells of mice. Specifically, they deleted a gene associated with the rare disorder tuberous sclerosis complex (TSC). Nearly half of all individuals with TSC develop autism. Studying single-gene disorders associated with autism helps researchers pinpoint affected brain circuits and test potential treatments, Dr. Sahin explains. 
Deleting the gene (either one or both copies) caused all three of autism’s core behaviors .... More @ http://www.autismspeaks.org/science/science-news/one-gene-one-drug-affect-autism-behaviors-mouse-model


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