Question of the Week: What is Angelman Syndrome?
By Express Features
17th February 2013 12:00 AM
It is named after Dr Angelman who detected the syndrome in the late 1960s. It results from the loss of a particular gene—UBE3A—in chromosome number 15. Loss of this gene prevents neurons from functioning correctly in the brain, leading to deficiencies in learning and memory. The AS is a severe neurological disorder characterized by profound developmental delays, and in many cases epilepsy. Individuals with AS do not develop functional speech. The AS affects across races and genders. People having AS require life-long care and multiple medical interventions. Currently, there is no cure for it.
Loss of UBE3A gene does not affect neuronal development, but the neuronal function. So, neurons can function normally if UBE3A gene function is restored. Moreover, the syndrome has been cured in mouse (models). And scientists have ideas on how to find a solution.
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