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Study Says Loss of Enzyme Reduces Neural Activity in Angelman Syndrome
Over a decade ago, researchers found that AS was caused by mutation in a single gene, but no one had been able to explain how this defect resulted in the debilitating neurological symptoms of the disease.
New work from Michael Greenberg, chair of the department of neurobiology at Harvard Medical School (HMS), provides insight into the mystery by showing that the lost enzyme, Ube3A, interacts with a key neuronal protein in order to control how environmental input shapes synaptic connections. In other words, loss of Ube3A interferes with the brain's ability to use environmental experience to fine-tune neuronal circuits, which could explain the devastating developmental deficits that occur in AS. This suggests new targets for treating Angelman syndrome. Currently, doctors can manage some AS symptoms, but there is no treatment for the core features.
What's more, the Ube3A gene is also mutated in some cases of autism, raising the possibility that these findings may also explain some of the problems that occur in autism spectrum disorders, which are 100 times more common than AS.
"With this work, we've gone from a place where we could only imagine how Ube3A might work, to being able to think about possibilities for therapeutic intervention in a disorder where until very recently there was little that could be done," says Greenberg, Nathan Marsh Pusey professor of neurobiology at HMS.
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