Progeria
The genetic disorder I chose is called Hutchinson Gilford Progeria Syndrome. It is more commonly known as just Progeria. I chose to write my paper on Progeria because it is a disease that many people know about, because its been on the news, and made into books and movies. Yet, I have never even heard of it till now.
Hutchinson Gilford Progeria Syndrome is a rare genetic disorder. It was discovered in 1886 by Hastings Gilford and Jonathan Hutchinson. It did not gain people’s attention though until 1981. This was when two kids,with Progeria, were discovered at Disneyland. These two kids were from South Africa and Texas. They were discovered by the media, who then did a report on them.
Progeria results in premature aging, and a life expectancy of 12 to 14 years. No signs are shown at birth, but they are usually seen between the ages of one and two. Some signs and symptoms are dwarfism, loss of body fat and hair, aged looking skin, hip dislocation, heart disease, a small jaw and face, and a pinched nose. Children with Progeria never reach sexual maturation and have thin high pitched voices. This disease does not affect their mental ability, in fact their intelligence is normal or above normal. By the age of ten these children are barely the height of a three year old. They only grow to the height of a five year old though, and have delayed tooth formation. The one major symptom and problem found in patients with Progeria is heart disease.
Heart disease, or atherosclerosis, is a major problem many of these children face. In fact, eighty percent of them die due to heart complications. Due to this major heart problem, they may have an enlarged heart, high blood pressure, or even chest pain due to poor blood flow to...
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...is could not have been said twenty years ago.Though there is only one organization solely dedicated to Progeria research, we continuously learn more about Progeria each day. With new information and treatments being discovered, the hope for finding a cure is even greater. Hopefully, over the next few years, we will be able to see an even bigger improvement in Progeria research and discoveries.
Biblography
"About Progeria." Progeria Research Foundation. N.p., n.d. Web. 21 Nov. 2013.
Ha Baek, Jean, Tomás McKenna, and Maria Eriksson. "Chapter 3 Hutchinson-Gilford Progeria Syndrome." Genetic Disorders. N.p.: InTech, 2013. 65-87. Print.
Wynbrandt, James, and Mark D. Ludman. "Progeria." The Encyclopedia of Genetic Disorders and
Birth Defects. New York, NY: Facts on File, 2000. 320-21. Print.
Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when
The American Heart Association gives sufficient evidence for the need of change by acknowledging that sudden cardiac arrest is a leading cause of death (2012). These fatalities affect both adult and child victims. Statistics also show that 70% of people feel helpless during a cardia...
For Great Artery Stenosis in Children with Congenital Cardiac Disease." Cardiology in the Young 22.2 (2012): 178-183. Academic Search Premier. Web. 17 Nov. 2013.
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 thi...
Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. Mayo Clinic, March 20, 2014. Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia are considered people with supernatural powers. Many people call dwarfs midgets, but to them, it is very disrespectful because midget literally means little person.
Berkowitz, Carol. American Academy of Pediatrics: Dedicated to the Health of all Children. American Academy of Pediatrics. 8 Dec. 2004
My first experience with genetics in a lab setting was in my AP Biology class, where we worked with recombinant plasmids. Because I so thoroughly enjoyed that learning experience, I went online to look at the various applications of genetics, discovering how a world of possibilities still lies in the near future in the field of genetics. DNA is the code for all life as we know it, and now that we have the capability to manipulate it, the applications for genetic biotechnology in tackling genetic diseases and mutations are unbounded. This prospect truly excites me because of its potential to help others. I aspire to be able to help others with the work and research I perform in the field of genetics in the future.
It is estimated that 1 in 4 million newborn children are affected with this syndrome worldwide. It starts with the children suffering from scleroderma, which makes the skin appear scaly and thin. Within the first year there is a slowing in their growth rate and weight gain the physical development becomes stagnant, at two to three years of age their hair starts to fall out and they lose subcutaneous fat. The intelligence, and emotional development of children with progeria are on pare with children the same age but not affected by the syndrome (Hennekam, 2006 pp. 2603-2624).
In the film, two contrasting examples of genetic testing are shown. The first example is of the twins Noah and Alexis Beery, who are stricken with a rare disease that mimics cerebral palsy. Through genetic testing, doctors discovered that the twins could be treated with dopamine. By sequencing their entire genome, the twin’s lives were saved. The second example is Andrew S...
In closing, as overwhelming as the complications brought about from progeria may seem it is important to keep things in perspective. Research has gone a long way to improve the livelihood of those affected by this awful disability and in the process opened several new doors. While these fresh discoveries raise a plethora of new questions, it is essential to pursue the betterment of life for everyone. After all, HGPS is but one of many disorders set off by a slight and uncontrollable mutation. Fortunately, organizations such as the Progeria Research Foundation are working hard to raise awareness of the disease and unlock its true cure. In time all of this strife will bring a rich reward of enlightenment and new possibilities for the genes of every living being as the mesmerizing depths of the genome are abundantly explored.
Progeria comes from a Greek word that means prematurely old (Ludman). After finding more cases of Progeria, researchers have discovered that there are three types of Progeria: Werner’s Syndrome, Wiedemann-Rautenstrauch Syndrome, and Hutchinson - Gilford Syndrome. Werner’s Syndrome is the adult type of Progeria, where a person starts to see symptoms in their teen years, and typically lives until their 40’s or 50’s (Gordon). Another type of Progeria is Wiedeman-Rautenstrauch Syndrome, which occurs in infants. In this case symptoms are noticed immediately after birth and the child normally only lives to their teen years (Staff). Lastly, Hutchinson-Gilford Syndrome is a type of Progeria in children where symptoms appear around the age of two, and the child’s shortened life ends in the teen years (Gordon). While there are different types of Progeria, this paper will focus specifically on Hutchinson-Gilford Syndrome.
Today, cardiovascular disease is “the number one killer in the United States and the developed world” (Sapolsky, 2004, p. 41). Coronary heart disease (CHD) is the most common form of cardiovascular disease, and is responsible for claiming an unreasonable amount of lives every year. CHD can begin to accumulate in young adults, but is prominently found in both men and women in their later adult lives. As a result of CHD, men typically experience heart attacks, whereas women present with chest pains, known as angina (Matthews, 2005).
One of the leading causes of death in the United States is heart disease. “Approximately every 29 seconds one American will have a heart attack, and once a minute one American will die from a heart attack” (Ford-Martin and Odle, 915). According to the Gale Encyclopedia of Alternative Medicine men over the age of 45 and women over the age of 55 are considered at risk for heart disease. Heart disease is a major cause of death. It is beneficial to individuals who seek to prevent heart disease to recognize the risks leading to heart attacks as they are one of the primary indications of developing heart disease; especially those that fall into the at risk age groups. These risks consist of some that cannot be changed such as heredity risks, or those that can change such as smoking habits. It is very important to know these specific risks for prevention and to understand the symptoms of heart attacks, such as sweating or the feeling of weakness so if these or other symptoms occur people are aware. Finally heart disease treatment is of vital importance if you experience a heart attack so you can learn how to prevent another one from occurring.
Cardiovascular disease, cancer, and diabetes is said to account for nearly two of every three deaths in the U.S. Though there is a possibility of these diseases being prevented with a healthy lifestyle, there is no way to actually prevent the onset and progression of these conditions. Sadly, young children are being introduced to these unhealthy lifestyles and taking them right into adulthood; thus becoming walking billboards for the diseases. These diseases compromise health, shorten life expectancy, and cause enormous suffering, disability, and economic ...