Fragile X Syndrome, is a genetic disease, which is more common amongst males than females. This genetic disorder is the most common form of inherited mental impairment, which strikes 1 in 32000 Americans yearly. Many with Fragile X Syndrome, are often mistaken for people with autism, due to similar physical traits, and also behavioral similarities. Because this disorder is genetically passed, the problems that cause it start in the cell itself. For example, the average human has a mutation call FMRP (fragile x mental retardation protein) in some of their cells, however, those with Fragile X Syndrome, the FMRP mutation is absent, and instead have the FMR1 (fragile x mental retardation 1), gene in the DNA which makes up the x chromosone. This mutation causes the methylate the regulatory region of the FMR1, which turns it off; this triggers Fragile X Syndrome. Some of the symptons include- short attention span, poor eye contact, simian crease, hyper extensible MP joints, hand flapping, long faces, prominent ears, etc. In addition, a woman, even one who is only a carrier, can experience complications during pregnancy. Though there is no cure for Fragile X Syndrome at this time, treatment is available for many of the uncomfortable symptoms of it. Unfortunately, research has proven that Fragile X Syndrome patients' life spans are approximately 12 years shorter. Overall, researching this specific disease made me feel sadness for those who experience this terrible disease on a normal basis.
Sources : www.fragilex.org
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