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Angelman Syndrome And Prader Willi Syndrome Essay

1661 words - 7 pages

Arapahoe Community College

Angelman Syndrome & Prader-Willi Syndrome

Research Paper
Professor Shelly K. Veatch
Submitted in Partial Fulfillment of the Requirements for
PSY 101 166
General Psychology I

Sean Cooney
Littleton, Colorado
April 2012
Angelman Syndrome & Prader-Willi Syndrome
Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.
The phenotypical differences between the two disorders are drastic. Those with Angelman syndrome present a thin body with a slightly deformed cranium, whereas those with Prader-Willi typically end up highly obese due to alterations in the structure of the brain resulting in an inability to feel satiety.
I chose to write on these disorders due to the fact that they are caused by an absence of the same genes, but because such divergent effects due to imprinting. The epigenetic mechanics of the disorders interested me, and therefore, I took this opportunity to examine them to a greater level of depth.
A Historical Sketch
Angelman syndrome was discovered by Dr. n Angelman, who described the first cases in 1965, describing the afflicted children as “puppets”. This led to the name of Happy Puppet Syndrome, which was the term used to refer to the disorder until the 1980, where it began to fall out of use subsequent to a paper by Williams and Frias. In 1995, Reish and King established that the gene or genes responsible for causing Angelman Syndrome were on the q arm of chromosome 15 between regions 11.2 and 12. In 1997, Trent et al. proposed that the causative factor of the syndrome was the gene UBE3A - further research confirmed this proposal as accurate.
Prader-Willi Syndrome was first discovered in x by Andrea Prader and Heider Willi, from whom the name of the disorder originates, and others. In 1990, Greenstein published a paper that showed that the disorders were consistent with imprinting failures.
The Nature of the Disease
Angelman syndrome is thought to be caused mainly by the deletion of the maternally inherited copy of UEB3A. A small number of cases are also caused by failures in imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound mental effects are caused by this gene due to the fact that, while UEB3A’s protein is active in various bodily tissues, only the mother’s copy of the gene is active in the brain.
The phenotype of Angelman Syndrome is not overt enough to be detected unless it...

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