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Angelman Syndrome was first identified by Harold Angelman in 1965. He called it Happy Puppet Syndrome.
Angelman
Syndrome
by
Kay Sue Collins
Angelman Syndrome is caused by an abnormality on Chromosome 15 at the gene Ubiquitin-protein Ligase E3A (UbE3A). This disease is a good example of a epigenetic disorder. If the mutation occurs on the gene from the mother, the child has Angelman Syndrome; if it occurs on the gene from the father, the child has Prader-Willi disease,
There are no treatment options aside from various forms of therapy
Symptoms:
Children with Angelman Syndrome have jerky movements, hand waving, and smile excessively. They have limited cognitive ability and are usually non verbal. they have low muscle tone which can cause other symptoms these include delayed physical development and frequent vomiting. They walk late (usually between 2 1/2 and 6 years of age. Seizures are often common.
Proposal
I want to do a study to determine which tissues have suppressed paternal alleles. A marker could be inserted into the embryo of mice on the paternal chromosome that will cause the tissue where it is expressed to glow or emit radiation.
References:
Video of Maliah-Momof1angel
http://www.youtube.com/watch?v=-smToUcC-pw
Video of Clapping girl-Paula120965
http://www.youtube.com/watch?v=gb2U_vXqg4c&feature=related
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