What is Angelman Syndrome?
August 7, 2011
News Worldwide
Angelman syndrome is an unusual inherited illness that causes severe, but a constellation of developmental problems in children who are affected, including mental retardation, small talk, 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, president of the department of neurobiology at Harvard Medical School (HMS) that provides a glimpse into the mystery by showing that the enzyme is missing, UBE3A, interacts with neuronal proteins key to control how the environment shapes the synaptic input 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 lack of development that occurs in the devastated U.S.. 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 basic functions.
Moreover, the UBE3A gene is also mutated in some cases of autism, which raises the possibility that these results may also explain some of the problems that occur in autism spectrum disorders, which is 100 times more prevalent than in the States USA.
With this work, we have moved from a place where we can only imagine how UBE3A can work, be able to reflect on the possibilities for therapeutic intervention in diseases that, until recently there was very little to do” said Greenberg, Nathan Marsh Pusey professor of neurobiology at HMS.
Angelman syndrome results in the number published on March 5. During the first years of life, the brain works, “Rewired,” external stimuli. Adjusting these neural connections is important to establish normal neurological functions, and should go wrong in a number of developmental disorders that lead to mental retardation or other cognitive problems. The new work shows that Ube3A is a key regulator in this process, and the relationship between the loss of some changes Ube3A synaptic activity.
Posted by Sid A · Filed Under World news
