Angelman syndrome is a rare genetic disease that causes severe, but a constellation of developmental problems in children with mental retardation as less talking, and in some cases, autism. More than a decade, researchers have 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.
New work by Michael Greenberg, chairman of neurobiology at Harvard Medical School (HMS), offering a glimpse into the mystery, showing that the enzyme is missing, UBE3A, interact with neuronal proteins key to control how the environment shapes the input synaptic connections. In other words, the loss of UBE3A disrupt the brain’s ability to use the environment to enhance the experience of neuronal circuits, which could explain the development deficits that appear to destroy the United States.This suggests a new target for the treatment of Angelman syndrome. Currently, physicians can manage some symptoms of AS, but there is no cure for essential features.
In addition, the UBE3A gene is mutated in some cases of autism, which raises the possibility that these results could also explain some of the problems that occur in autism spectrum disorders, which is 100 times more frequent than the United States.