Angelman+Syndrome

By Jessica Spencer

 __Name:__ Angelman’s Syndrome

__Root Cause__: The root cause is either a deletion of Chromosome 15 or a mutation of the gene UBE3A.

__Affected__: Neurons in patients are found to be correctly formed, but are unable to function in the correct manner.

__Historical Background__: Angelman Syndrome is named after Dr. Harry Angelman, who was the first to discuss it in 1965.

__Common Symptoms__: The most common symptoms of Angelman Syndrome include slow development, speech impairment, jerky movement, random bursts of laughter or smiling, and short attention span.

__Standard Treatments__: There is no known cure available currently. Many parents use Melatonin to help their children with it sleep.

__Current research:__ Current research is focused on finding some type of cure for the syndrome. One is being done by Dr. Edwin Weeber on humans (Weeber, 2009), and by Dr. Ben Philpot (Philpot et al. 2011) on mice. References: Chamberlain, S.J., Lalande, M. (2010) Angelman syndrome, a genomic imprinting disorder of   the brain. //The Journal of Neuroscience//, 30(30):9958-9963. Philpot, B.D., Huang, H.S., Allen, J.A., Mabb, A.M., King, I.F., Miriyala, J. Taylor-Blake, B.,  Sciaky, N., Dutton, J.W., Lee, H.M, Chen, X., Jin, J., Bridges, A.S., Zylka, M.J., Roth,  B.L. (2011) Topoisomerase inhibitors unsilence the dormant allele of ube3a in neurons.  //Nature//, 481(7380):185-189. Weeber, E. (2009) Angelman syndrome research. //Neurobiology of Learning and Memory// //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;"> Laboratory //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">, Retrieved on May 13, 2013, from http://weeberlab.com/as.html