Marissa Duncan
Psychology 205
Fragile X Syndrome
The most common form of inherited mental retardation today is none other than Fragile X Syndrome. Fragile X is a chromosomal disorder caused by a mutation of the FMR1 on the X chromosome that some individuals, mostly males, are born with rather than develop later on and it is seen all around the world. A couple of major contributors to the Fragile X syndrome discovery are J. Purdon Martin and Julia Bell. In 1943, they studied a family in which numerous males had mental retardation. By inferring that it was genetic, they were able to link this mental retardation to an X-linked inheritance. In 1969 Herbert Lubs first discovered Fragile X syndrome under a microscope. He revealed that one of the arms on the X chromosome appeared broken hence the name Fragile X. The FMR1 gene provides guidelines that make a protein named fragile X mental retardation 1 (FMRP). The symptoms seen are caused because the gene cannot produce enough FMR1 protein that is needed in cells of the body and especially in the brain for normal development. Fragile X is somewhat preventable due to prenatal genetic counseling now that the disease is more understood. Meaning, a woman can get tested to see if she is a carrier of Fragile X. From there she can decide if she wants to have children and risk passing down this disease to them. Individuals affected by Fragile X syndrome have difficulty with sequential processing, learning disabilities, and many other things.
Fragile X Syndrome is a sex-linked disorder, meaning that the gene responsible for this disorder can be found on the X chromosome as stated before. Fragile X Syndrome is the direct result of a full mutation on the Fragile X Mental Retardation gene (FMR1 gene) on this chromosome. This gene is located on the Xq27 band on long arm of the X. When a person suffers from this, an analysis of their karyotype will reveal a slight break or fracture on the X chromosome in this region. Next, when understanding Fragile X Syndrome, it is vital to study the inheritance pattern of this genetic defect. This disease is a very spontaneous genetic disorder. It is the result of random mutation in the FMR1 gene, but it begins with what is called a pre-mutation. When someone’s FMR1 gene begins to mutate, they are said to have a pre-mutation of Fragile X Syndrome rather than the full on disease. A person with a pre-mutation of Fragile X does not suffer from the disease in any way, or display any of the diseases symptoms. Instead, people who have a pre-mutation in their FMR1 gene are known to be “carriers”. As the pre-mutated FMR1 gene on an individual’s X chromosome is passed on to their children, the number of mutations in the FMR1 gene becomes larger. Every time the pre-mutation is passed on to a new generation, the mutation expands. Furthermore, it is significant to note that male child can only inherit Fragile X Syndrome from a female carrier. A female child, on the other hand, can only inherit Fragile X Syndrome if they inherit it from both of their parents. Females that only inherit one fully mutated Fragile X Mental Retardation gene tend not to display Fragile X Syndrome in its true form, as their normal FMR1 gene (located on their other X chromosome) overpowers many of the problems associated with Fragile X Syndrome. Therefore, it is apparent that the inheritance of Fragile X Syndrome is very essential to understanding the disease.
Furthermore, when discussing Fragile X Syndrome, the most important thing to realize is that this genetic disease usually demonstrates itself in the form of mental retardation. For a start, people with Fragile X experience a slow development, and below-average IQ’s. This disease can also cause hyperactivity and emotional problems. In addition, these individuals usually have prominent ears, a large head, a prominent forehead, extra flexible finger joints, flat feet, a short attention span, shyness, and social anxiety. In some cases, people with Fragile X Syndrome can also suffer from several other physical complications as well. These complications include: regular ear infections, seizures, mitral valve prolapse (a heart valve problem), and in rare cases, even hernias. Children with Fragile X Syndrome are generally tremendously sensitive to stimuli in their environment. Also, they are often anxious and experience repeated temper tantrums. Upon analysis of the symptoms of Fragile X Syndrome, it becomes evident that people who suffer from this disease can exhibit a wide range of characteristics.
While Fragile X Syndrome is a very difficult disease to manage and deal with, there are several medications that can help people who suffer from it. For example, doctors usually prescribe stimulant medications to Fragile X Syndrome patients. Medications such as Ritalin, Dexedrine, and Cylert, are all drugs used to help people with Fragile X to improve their concentration, and decrease their distractibility. These types of medications also help to minimize temper tantrums, aggression, anxiety, and obsessive thinking among Fragile X children. Thus, although the disease itself cannot be cured, it is very clear that there are a number of ways to treat the symptoms.
In conclusion, it becomes apparent that Fragile X Syndrome is a complicated genetic disorder that affects the lives of thousands of people. It is a disease that cannot be prevented or cured although genetic testing is available. Through analyzing the Fragile X Syndrome gene and mutation, the signs and symptoms of Fragile X Syndrome, the lifestyle, emotional effects, and the diagnosis, treatment and current research which deal with this Syndrome, it becomes obvious that the disease is a problem that needs to be looked into more. This is a disease which has a massively negative impact on many lives, and simply treating it will not be good enough.

References
"Fragile X Syndrome." National Fragile X Foundation. N.p., n.d. Web. 18 Oct. 2012. <http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/>.

"Fragile X Syndrome." Fragile X Syndrome. N.p., 24 Mar. 2010. Web. 18 Oct. 2012. <http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm>.

Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 12 Oct. 2012. Web. 18 Oct. 2012. <http://www.cdc.gov/ncbddd/fxs/facts.html>.

"FRAXA Research Foundation finding a Cure for Fragile X and Autism Our Cause." FRAXA Research Foundation finding a Cure for Fragile X and Autism Our Cause. N.p., 12 June 2012. Web. 18 Oct. 2012. <http://www.fraxa.org/cause.aspx>.

"Carriers." National Fragile X Foundation. N.p., n.d. Web. 18 Oct. 2012. <http://www.fragilex.org/fragile-x-associated-disorders/carriers/>.