By Jessica Spencer

Angelman Syndrome.jpg

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
Laboratory, Retrieved on May 13, 2013, from http://weeberlab.com/as.html