Thursday, November 14, 2019

Fragile X Syndrome Essay -- Health, Diseases, Mental Retardation

Background (576 words) The most common cause of inherited mental impairment is Fragile X Syndrome. Fragile X Syndrome is a mental retardation that affects social, learning and intellectual disabilities. It is a result of a change and mutation in a single gene, which can be pasted on to future generations. Symptoms arise when the mutated gene, FMR1, cannot produce enough of the protein, FMRP, that the body’s cells need to function. The symptoms can vary from each affected individual depending on how severe the gene mutation is. Fragile X causes symptoms such as intelligence and learning difficulties. Those who are effect normally have an IQ of 75 or less however this is more variable depending on gender, physical appearance, social and emotional concern, speech and language impairment, sensory problems and many other disorders that are commonly associated with Fragile X, such as autism. Learning and intelligence difficulties affects people who suffer from Fragile X ability to think, reason and learn which can also trigger other disorders for instance attention disorders, hyperactivity and anxiety. Males with Fragile X often show physical indications, which are associated with unique facial features such as wider foreheads and elongated ears, connective tissue problems and enlarged testicles, which is called macro-orchidism, (National Institute of Health, 2006). Graph 1 and graph 2 show the comparison of the symptoms shown by males and females. Graph 1: Males with the full mutation of Fragile X Syndrome (Raspa, 2009) Graph 2: Females with full mutation of Fragile X syndrome (Raspa, 2009) The incidence of fragile X is common among people because there are two classifications of it such as the full mutation and the pre... ...ymptoms associated with Fragile X. The scientists also manufactured mice that had a 50 percent reduction in mGluR5 as well as a deficient of the FMRP protein. It was found that from that group of mice, they presented less symptoms of fragile X, less signs of abnormalities in the brain and fewer signs of abnormal body growth (Bear, 2007). That same group of mice also displayed a considerable decrease in epileptic seizures. Although these discoveries sound promising there is also the issue of ethical controversy. Ethical controversy is the negative feed back from anti science protestors who are arguing that fact that scientists should not have to right to play ‘god’ and should let the course of nature figure it out. Advances in science are normally made before society can conduct meaningful ethical and moral discussions about these advances in medicine and disease.

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