Angleman Syndrome: The Truth Behind the Puppet Children

      Harry Angelman was a pediatrician working in Warrington, England. He one day reported three children that had seemed to be suffering from many different conditions in 1965. He later called them the “Puppet Children” due to seeing an oil painting on his trip to Italy that much resembled the children in his ward. This disorder existing in those children would later be called Angelman Syndrome in Harry Angelman’s honor, and be known as another new genetic discovery.

The picture that Harry Angelman saw on his trip to Italy, called "Child with a Drawing" or "Boy with a Puppet"
The picture that Harry Angelman saw on his trip to Italy, called “Child with a Drawing” or “Boy with a Puppet”

Angelman Syndrome is a genetic disorder much like Down Syndrome that impairs the nervous system in children. Symptoms  of this disorder include severe language deterioration, movement and balance problems, and intellectual disability. 1 in 12,000 to 20,000 children are diagnosed with Angelman Syndrome. People with Angelman Syndrome often suffer from seizures and are commonly seen laughing, smiling, and making hand-flapping movements. They often have a short attention span, hyperactivity, and a fascination with water. They appear to have unusually fair skin and light-colored hair with an abnormally curved spine. Their life expectancies seem to be normal.

In 1997, researchers determined that Angelman Syndrome was caused by a mutation in a gene known as  UBE3A, or ubiquitin-protein ligase. Both copies of this gene are active in many of the body’s tissues. However, sometimes the UBE3A gene is lost. A segment of chromosome 15 containing this gene is deleted in about 70% of Angelman Syndrome cases. A mutation in the copy of the UBE3A gene is present in 20% of the cases. A small percentage of cases are caused by the result of a person getting 2 copies of chromosome 15 from their father instead of 1 copy from each parent. Angelman Syndrome can also be caused by translocation.

While a cure doesn’t exist yet, tests have revealed some ideas for making a cure. One test has found that drugs used to treat cancer may be helpful in treating those with Angelman Syndrome. The researchers discovered that by screening through 2,000 compounds through the brain neurons, they could be able to reactivate the UBE3A gene using the correct compounds. The researchers found that the compounds in reactivating the UBE3A gene were similar to the drugs used to treat cancer and were also found in chemotherapy treatments. However, due to the fact that the side effects may be similar to those with cancer treatments, further research is needed. Using mice, another test has revealed that the neurological problems in Angelman Syndrome patients could be alleviated. The scientists found that in the Angelman Syndrome mouse model, changes in an enzyme named calcium/calmodulin-dependent protein kinase II, also known as CaMKII.  The CaMKII activity was discovered to be reduced due to an inhibitory chemical modification. They suspected that this might be the factor that causes the neurological deficits seen in Angelman Syndrome children. They also concluded that perhaps CaMKII may be linked with other mental disabilities as well.

Angelman Syndrome is one of the newest genetic disorders discovered. While many tests have provided an insight on how to cure and treat the disorder, Angelman Syndrome and its “Puppet Children” are both still a puzzle that has a lot of pieces missing.

1.  Angelman Syndrome is not the only kind of genetic disorder. What other kinds of disorders are there, and what exactly are they? What symptoms are related to the disorder? Do they have symptoms similar to Angelman Syndrome?
2. What are the jobs of the UBE3A gene and CaMKII?
3.  What is translocation?

 

1 thought on “Angleman Syndrome: The Truth Behind the Puppet Children

  1. This topic was very intriguing and I learned a lot. I did not know that this genetic disorder even existed. I found it very interesting how similar it is to Down Syndrome. I decided to go with your third question and this is what I found.
    I found out that translocation has to do with non-homologous chromosomes to be rearranged causing an abnormity. One last thing I would like to add is that I would like to know more about what kind of research they are doing to possibly cure this.

    http://en.wikipedia.org/wiki/Chromosomal_translocation

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