2011 Group Project 7
|Note - This page is an undergraduate science embryology student group project 2011.|
Your Project Goes Here.
Hey guys, since we haven't decided on a disorder yet, I thought I'll do my research on the Angelman Syndrome (the smiling syndrome) since it was one of our options anyway.
Greer, P., Hanayama, R., Bloodgood, B., Mardinly, A., Lipton, D., Flavell, S., & Greenber, M. (2010). The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc. Cell, 140(5), 704-716. doi:10.1016/j.cell.2010.01.026
The aim of this research paper is to find out how the Ube3A gene mutation causes cognitive impairment in individuals with Angelman Syndrome. The research is specifically looking into the role of Arc (synaptic protein) and AMPA (subtype of glutamate receptors). The experimental data suggests a relationship between the disruption of Ube3A activity and decrease in AMPA expression and how this can be utilised in the treatment of AS by using drugs that promote AMPA receptor expression.
Pelc, K., Cheron, G., & Dan, B. (2008). Behaviour and neuropsychiatric manifestations in Angelman Syndrome. Neuropsychiatric Disease and Treatment, 4(3), 577-584.
Angelman Syndrome is most often characterised by symptoms such as happiness, profuse smiling and poorly specific laughing. This review article sheds light on other less obvious but more debilitating features of Angelman Syndrome, such as areas of cognition, motor control, epilepsy, sleep etc. It also compares the effectiveness of behavioural management of the disease versus medication (e.g. neuroleptics or antidepressants).
--z3291622 22:39, 10 August 2011 (EST)
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip