Fragile X Syndrome

Most people who suffer from mental impairment are affected by Fragile X Syndrome. 1 in 3600 males and 1 in every 4000 -6000 women suffer from this illness. The effects range from mental retardation to autism.
Click this link to view video (approx. 2:35 duration). http://www.cdc.gov/ncbddd/single_gene/video/FragileX-3.html
This video loops!

Molecular Cause
Every individual makes many kinds of proteins in their bodies. One type of these proteins is the Fragile X Mental Retardation Protein (FMRP). This protein is made in regulated amounts and is used when the body needs it. Inside their X chromosome, people with Fragile X have a problem with their Fragile X Mental Retardation gene which makes FMRP. This problem is a mutation which causes the body to not produce FMRP. This condition is called Fragile X Syndrome.

In those affected by this disorder the mGluR gene breaks down, making these brain cells shut down so no proteins are created. People affected by autism learn too much in one certain area. This is called mGluR-LTD. Although there is no known cure for Fragile X Syndrome research shows that scientific intervention is possible. Specific compounds were found which lessen hyperactivity and increase the attention spans of those affected (ADD and ADHD being symptoms of Fragile X). These drugs are being worked on by multi million dollar pharmaceutical corporations. These drugs are also possible leads to help those affected by anxiety disorders. Alternate schooling techniques are also being used to aid those children affected. These are major breakthroughs for those with Fragile X Syndrome, autism and other disorders.

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This diagram shows how genetic disorders can be passed down through generations.


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A model of where DNA is in a cell.

Cases in Males
Physical Characteristics:
For males there are many physical symptoms of Fragile X including abnormally large ears and enlarged testicles. No affected male may suffer from all symptoms at the same time.
Behavioral Symptoms:
For males as well there are also many behavioral symptoms consisting of ADD, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various stimuli.

Cases in Females
Many of the same symptoms can be found in females as well as males although symptoms are often milder. One third of affected females have significant mental disabilities while the rest have lesser cases.

Cases in Children
Behavioral Characteristics:
Children affected by Fragile X syndrome are not nearly as impaired as adults. The affected children are described as fun-loving, kind, and social people.
Boys:
80-90% of affected boys exhibit ADD like symptoms. Many boys have abnormal habits of hand flapping, chewing on objects such as bodily apparel and skin.

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One of the many Fragile X poster boys.

Is Fragile X Infectious?
No it is not infectious or contagious. Fragile X cannot be caught like a cold or an influenza. It passed down through the genes of parents also known as through heredity. Unlike many genetic disorders, Fragile X is not the result of one problem in the DNA. It is the result of many changes or a trinucleotide disorder. This means that a part of the DNA gene is copied many times.

Is There a Cure?
Although there is no known cure for Fragile X Syndrome, therapy and individualized extra education can lead to improvement. There are many research groups working very hard to discover a cure.


Timeline of Fragile X

1943-Scientists Martin and Bell discovered that a kind of mental retardation was linked by the X chromosome. This genetic disorder is later named Fragile X disorder.

1969-Herbert Lubs discovers a test to diagnose Fragile X Syndrome.

1970’s-Herbert Lub’s test is used world wide.

1991- Scientists discover the cause of Fragile X, the FMR1 gene.

Discussion Questions
1) If you were pregnant and you knew that your baby would have Fragile X Syndrome, would you have an abortion?

2) If your child had Fragile X Syndrome, would you send him or her to a private school for people with Fragile X?

3) If your child had Fragile X Syndrome, would you encourage him or her to socialize with unaffected children? If yes, how would you encourage him or her to do so?

Work Cited
-Abrams, L.J. "Summary of Fragile X Syndrome". National Fragile X Foundation. May 9, 2007 <http://www.fragilex.org/>
-Clapp, Katie, MS, Tranfaglia, Michael, MD. "Research". Fraxa. May 15, 2007 <http://www.fraxa.org>
-Unknown. "Fragile X Syndrome". Your Genes Your Health. May 15, 2007 <http://www.ygyh.org/fragx/whatisit.htm>
-Getting Started


Danny
Sebastian