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Rare genetic disorder gives clues to autism, epilepsy, mental retardation
Date:9/23/2008

A rare genetic disorder called tuberous sclerosis complex (TSC) is yielding insight into a possible cause of some neurodevelopmental disorders: structural abnormalities in neurons, or brain cells. Researchers in the F.M. Kirby Neurobiology Center at Children's Hospital Boston, led by Mustafa Sahin, MD, PhD, and Xi He, PhD, also found that normal neuronal structure can potentially be restored.

If this could be done safely in humans, it might be possible to ameliorate the symptoms of epilepsy, mental retardation and autism, which are frequent complications of TSC, say the researchers. Their findings, accompanied by commentary, were the cover article of the September 15 issue of Genes & Development.

TSC causes benign tumor-like lesions, which can affect every organ in the body and are called tubers when they occur in the brain. In the study, Sahin, He, lead author Yong-Jin Choi, PhD, and colleagues show in mice that when the two genes linked to the disease, TSC1 and TSC2, are inactivated, neurons grow too many axons (the long nerve fibers that transmit signals). Normal neurons grow just one axon and multiple dendrites (short projections that receive input from other neurons). This specification of axons and dendrites, known as polarity, is crucial for proper information flow.

"We think if initial polarity is not formed properly, the result will be abnormal connectivity in the brain," says Sahin, who also directs the clinical Multi-Disciplinary Tuberous Sclerosis program at Children's.

Since autism occurs in about half of people with TSC, the findings support the idea that such miswiring causes or contributes to autism, Sahin adds. He has received funding from Autism Speaks, the Manton Foundation and the Tuberous Sclerosis Alliance to pursue this idea further.

"People have started to look at autism as a developmental disconnection syndrome there are either too many connections or too few connections between
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Contact: James Newton
james.newton@childrens.harvard.edu
617-919-3110
Children's Hospital Boston
Source:Eurekalert

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