Angelman syndrome

Angelman Syndrome is a rare genetic disorder that causes serious but a constellation of developmental problems in children who are affected, including mental retardation, less talking, and in some cases, autism. More than a decade ago, researchers discovered that the U.S. is caused by mutations in single genes, but none could explain how these defects lead to symptoms of debilitating neurological disease.

The new work from Michael Greenberg, chairman of the department of neurobiology at Harvard Medical School (HMS), providing insight into the mystery by showing that the enzyme is missing, Ube3A, interact with neuronal proteins key to controlling how the environment shapes the input synaptic connections. In other words, the loss Ube3A disrupt the brain's ability to use the environment to enhance the experience of neuronal circuits, which could explain the developmental deficits that occur in the U.S. destroyed. This suggests a new target for treating Angelman syndrome. Currently, physicians can manage some symptoms of AS, but there is no treatment for the core features.
                                    
What's more, Ube3A gene also is 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 is 100 times more common than the U.S..

"With this work, we have gone from a place where we can only imagine how Ube3A might work, to be able to think about the possibilities for therapeutic intervention in disorders in which until very recently there was little to do," said Greenberg, Nathan Marsh Pusey professor of neurobiology at HMS.