Progeria: Adolescents Living In The Bodies Of The Elderly

1700 words - 7 pages

One hundred and thirteen children have the mind of an adolescent, but the body of the elderly. (Gordon) These children are dealing with the deadly disease known as Progeria. The main cause of this is a minute genetic mutation, which leads to an abundant amount of symptoms. Progeria does not affect a ubiquitous number of people; however, it still has an impact on the victim and their families. In the beginning stages, the child grows slowly without any weight gain resulting in the appearance of aging. The child's life is also affected due to the symptoms, tests, and treatments they experience. Progeria is a rare ailment in adolescents that stems from a specific genetic abnormality for which there is no current cure, and it dramatically impacts the life of the individual physically, mentally, and emotionally.
The main cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues 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 to be spliced out of the final mRNA and results in a protein that lacks 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has taken place, the cells begin to synthesize abnormal lamin A proteins known as Progerin. Newly produced Progerin still have the attached farnesyl group engendering the Progerin to connect to the nuclear membrane permanently. Due to this, the formation of the nuclear scaffolding ceases to exist, and the lamina does not form correctly creating an irregular nucleus. Many concerned family members feel as though the parent might cause the mutation. However, many scientists believe this is a sporadic autosomal dominant mutation that can not be inherited.
Next, Progeria can be diagnosed through the symptoms displayed, and by certain tests. Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad...

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