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Essay / Progeria: teenagers living in the bodies of old people
One hundred and thirteen children have the mind of a teenager, but the body of an old person. (Gordon) These children are suffering from a deadly disease known as Progeria. The main cause is a tiny genetic mutation, which causes a multitude of symptoms. Progeria does not affect ubiquitous numbers of people; however, it still has an impact on the victim and their families. At first, the child grows slowly without any weight gain leading to the appearance of aging. The child's life is also affected due to the symptoms, tests and treatments he or she undergoes. Progeria is a rare disorder in adolescents that arises from a specific genetic abnormality for which there is currently no cure, and which has a significant impact on the individual's life physically, mentally and emotionally. The main cause of progeria is a genetic mutation. This disease arises from "a single nucleotide substitution that leads to aberrant splicing of LMNA, the gene that codes for type A nuclear lamins." (Kudlow, Kennedy and Monnat 398) This misspelling of only one letter occurs on chromosome 1. of the gene, which codes for lamin A. A point mutation from cytosine to thymine follows near the end of the LMNA gene, a discovery by the Collins laboratory. Gly608Gly, the most common mutation, results in "one hundred and fifty nucleotides encoded in exon eleven that must be separated from the final mRNA and result in a protein lacking 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has occurred, cells begin to synthesize abnormal lamin A proteins known as Progerin. The newly produced Progerin still has the farnesyl group attached, giving rise to Progerin, which permanently connects to the nuclear membrane. Because of this...... middle of paper...... Looking for clues about aging. CNN. September 2012: 1-2 Park, Madison. Clue on early childhood aging disease discovered. CNN. July 2011: 1-2 “Progeria”. uh.edu. April 14, 2014. University of Maryland Medical Center. May 12, 2014 http://umm.edu/health/medical/ency/articles/progeria “Progeria Info.” Progeria.be. February 13, 2014. Progeria.be. April 3, 2014. www.progeria.be/?page_id=165&lang=fr “Progeria, Hutchinson Gilford”. www.rarediesases.org April 20, 2011. National Organization for Rare Diseases. April 4, 2014 http://www.rarediseases.org/rare-disease-information/rare-opathy/byID/130/viewFullReport Stokes, Okines and Hayley Okines Old Before My Time: Hayley Okines' Life with Progeria.UK: Accent Press Ltd, 2011 “What causes progeria? » progeria2010researchproject.weebly.com.Weeby. May 12, 2014http://progeria2010researchproject.weebly.com/what-causes-progeria.html