Jacobsen Syndrome, a rare genetic disease characterized by a deletion of chromosome 11, is associated with autism-like behaviors in about half of the children born with the disease. To better understand this connection, a group of researchers at the University of California San Diego School of Medicine in collaboration with researchers at the University of Tokyo utilized a mouse model that exhibits the social behaviors of autism spectrum disorders in a recent study published in Nature Communications.

Affecting about 1 in 100,000 newborns per year, Jacobsen Syndrome (also known as 11q deletion disorder due to patients possessing a deletion at the terminus of the long (q) arm of chromosome 11) has symptoms that vary widely among individuals. These clinical manifestations include heart disease, intellectual and developmental disabilities, bleeding disorders, behavioral problems and slow growth. Previously, Dr. Grossfeld and his team at UCSD identified a gene, PX-RICS, that they hypothesize is the gene deleted in Jacobsen Syndrome. Concurrently, the researchers at the University of Tokyo were studying the PX-RICS gene’s role in brain development using a knock-out mouse.

Using this mouse model, the research teams found that the mice exhibited the most common autism symptoms similar to those in Jacobsen Syndrome, including anti-social behavior and repetitive activities. Upon further investigation, they discovered that these mice had low levels of the protein GABA_AR, which is required for neurons to function normally. Since the anti-anxiety drug clonazepam works to increase levels of GABA_AR, the PX-RICS-knockout mice were treated with the drug. The mice responded to the treatment of clonazepam by exhibiting almost normal behavior in the social tests previously performed on the same mice where they exhibited the autism-like behavior.  

The work of these researchers paves the way for further studies on clonazepam as a potential treatment for not only Jacobsen Syndrome, but also for treatment of other autism spectrum disorders.

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