Angelman Syndrome (AS) is a genetic disorder of the ubiquitin-protein ligase E3A or UBE3A on the 15th chromosome. If this is gene damaged or lacks the maternal allele for UBE3A contributions, it results in Angelman Syndrome (Mary 2011). This disorder was first discovered in 1965 by an English pediatrician known as Dr. Henry Angelman. Angelman studied children with similar motor disorders, facial abnormalities and a happy demeanor. He named this disorder "Happy Puppet Syndrome" after observing a painting by Giovanni Francesco Caroto named “A Boy with a Puppet”. By 1982, researchers at the University of Florida studied this disease more and compared it to Angelman research, renaming it Angelman Syndrome. It was not till 1997, that the cause of it was discovered to be a mutation in the UBE3A gene by Dr. Joseph Wagstaff and Dr. Arthur Beaudet (Tiranoff, 2003).
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Studies showed that the missing gene lead to dysfunction in the cerebellum affecting motor skills including balance and ability to eat and swallow. The lack of UBE3A disables the ability for the synapse to be modified, the lack of synaptic plasticity leads to a decrease in the amount of neurotransmitters released leading to complications in speech development. CaMKII levels in the hippocampus control calcium levels and receptors, when these are not properly activated, it can affect the growth of the spine leading to a curvature in the spine, known as scoliosis (Jana,
Studies showed that the missing gene lead to dysfunction in the cerebellum affecting motor skills including balance and ability to eat and swallow. The lack of UBE3A disables the ability for the synapse to be modified, the lack of synaptic plasticity leads to a decrease in the amount of neurotransmitters released leading to complications in speech development. CaMKII levels in the hippocampus control calcium levels and receptors, when these are not properly activated, it can affect the growth of the spine leading to a curvature in the spine, known as scoliosis (Jana,