What Causes It?
For people with Angelman syndrome, this maternal UBE3A gene is not doing its job, and that impacts their Messenger RNA (mRNA). Our DNA uses mRNA as a delivery service to send blueprints to the protein-assembly factories of our cells. People with AS have a mutation, deletion or another defect in their UBE3A gene that interrupts this delivery service. As a result, their neurons do not make any functional UBE3A protein, and that’s what triggers the symptoms of AS. This protein is what helps us walk, talk and perform other everyday tasks.
In most cases, Angelman syndrome isn’t inherited – particularly those caused by a deletion or UPD. Instead, these genetic changes occur as random events during the formation of reproductive cells or in early embryonic development.