...71197421 progeria-hutchison-gilford syndrome 3 Pages, 5 Sources, APA Style Preferred language style: English (U.S.); This topic is based on a topic of biotechnology, I have chosen progeria-hutchison-gilford syndrome. This paper needs to include an intro, body, conclusion, description of topic, demonstration of understanding, relation to health/nursing, accuracy and evidence of research. Progeria Hutchinson Gilford Syndrome (HGP syndrome) is a genetic condition that is fatal and is characterized by the child developing features of premature ageing. It tends to affect the musculoskeletal system, skin and the blood vessels. The disorder was reported separately by two different persons namely Hutchinson and Gilford in the late part of the 19th century. Till today about 100 cases of the disorder have been reported. About one in every 8 million births may develop this disorder. Many cases may go unrecognized, undiagnosed, or associated with stillborn children. The mortality rate of the condition is high due to heart and vascular disorders. A Child affected with the disorder may live for about 10 to 12 years. The condition more often affects males compared to females in the ratio of 5: 1. During the infancy stage, the child may appear to be normal, but after the age of 9 months to 24 months, the child begins to experience features of growth delays, stunted growth, short stature and the failure to put on body weight. The exact mechanism by which the disorder develops...
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...computer grafted onto a diminutive body. The flick follows “Benjamin Button,” born small, but appearing elderly and arthritic, who then spends the remaining screen time becoming physically younger. While this concept is fantasy, the situation of child who looks geriatric is very rare but very real. Progeria (also called Hutchinson-Gilford Progeria Syndrome or HGPS) is an extremely rare condition. This is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate. They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Like Pitt in the film, people affected with this rare condition experience hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking. People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances having a heart attack or stroke at a young age. These serious complications can worsen over...
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...Progeria is a rare, fatal genetic disorder, which is characterized by the appearance of accelerated aging in children. Progeria is also known as Hutchinson-Gilford Progeria Syndrome (HGPS) since the two main doctors who worked on finding it are Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897. It is hard to diagnose children with progeria since it is not noticeable in newborns. Progeria is more visible within a year since the symptoms begin to show. Some symptoms that are noticeable are that their growth rate slows down, the weight decreases, as well as it stunts their growth. Children with progeria have the same intellectual capacity of a normal child their age. They are only affected with physical appearance such as baldness,...
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...Hutchinson- Gilford Progeria syndrome(HGPS) which is more commonly known as Progeria is an extremely rare genetic disorder in which the child ages rapidly. Progeria must be diagnosed and is a lifelong illness. Progeria was first detected by Dr. Jonathan Hutchinson in 1886, then by Dr. Hastings Gilford in 1897. This is evidently where the disorder got its name. Progeria is caused by a genetic mutation that occurs before birth. The mutation occurs in the LMNA gene. The LMNA gene is responsible for creating a protein that helps maintain the structure of the nucleus in a cell. The LMNA gene holds the nucleus together, and without strength in the nucleus, the cells can become weak and cause aging. HGPS is a sporadic autosomal dominant mutation....
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...Progeria is a fatal genetic disorder that causes rapid aging. Progeria comes from the Greek word “Progeros” which means prematurely old (5). This syndrome affects males and females as well as all races in a uniform manner. The first type is known as Hutchinson-Gilford progeria syndrome, but can also be called Hutchinson-Gilford syndrome or HGPS. Hutchinson-Gilford progeria is the most typical type even though it’s rare. HGPS was first discovered in England by John Hutchinson in 1886, however he only described the genetic disorder. It wasn’t till later in 1897 that Hasting Gilford officially named the disorder Progeria. In 2003 the National Human Genome Research Institute partnered with Michigan University, the Progeria Research Foundation, and the New York State Institute for Basic Research in Developmental Disabilities and discovered the gene that leads to the...
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...Maheetha Bharadwaj Retrieved from the Progeria Research Foundation Website: progeriaresearchfoundation.org Table of Contents Introduction and History Research of Erikkson et al. (2003) Causes: Mechanisms of mRNA Splicing Truncated Lamina A: Progerin Reverse Transcriptase Polymerase Chain Reaction Effects Treatment: Macro and Molecular Conclusion Bibiography Introduction and History The Hutchinson-Gilford Progeria Syndrome (Progeria): fatal disease that causes rapid aging Only 1 in 8 million have this disease First appearance: Hutchinson(1886) Second appearance: Gilford (1904) Only roughly 60 cases have been reported since: (Debrusk 1972, Brown et al. 1985 & 1986) Erikkson et al. 2003—f rst research done to show actual i causes and effects Research of Erikkson et. al (2003) 1. Out of 23 progeria, he found that 20 had a de novo mutation in LMNA gene(codes for nuclear Lamina A) 2. 18 out of 20: GGCGGT 1 out of 20: GGCAGC 1 out of 20: GAGAAG The causes of Progeria in the other three cases are unknown 3. Creation of splice site Mechanisms of mRNA Splicing Introns vs. Exons Donor acceptor pairs: GT-AG, GC-AG, AT-AC, and GT-GG. (Fong et al. 2006). The base pair progressions, GT, GC, and AT have the potential to set of a splice site. The splice site signals the excision of genetic information, leading to a deletion of 150 bps, and 50 amino acids. Retrieved from: http://progeria2010researchproject...
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...Progeria, which is also known as Hutchinson-Gilford Progeria Syndrome, is a rare genetic disorder where dramatic, premature aging occurs in children. Children with Progeria are born looking normal. However between 10 to 24 months of age signs of accelerated aging start to appear, such as slow growth, protruding eyes and prominent scalp veins. As the child develops, they are characterized by a very short stature, low body weight, early loss of hair, lipodystrophy, scleroderma and decreased joint mobility. Their facial features also resemble that of an aged person. (c) These children generally die in their teens, commonly by age 13, predominantly due to cardiovascular complications related to atherosclerosis.(b) Progeria is mainly caused by a...
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...Post SC-108-1 April 29, 2013 Progeria Progeria, also known as Hutchinson Gilford Progeria Syndrome, and Progeria syndrome, is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The Progeria come from the Greek words “pro” meaning “before” and “gēras” meaning “old age”. The disorder has a very low incident rate, occurring in an estimated 1 per 8 million live births. Those born with Progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited. Although the term Progeria applies strictly to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson-Guilford Progeria Syndrome. At present there are 53 known cases of Progeria around the world and only 2 in the UK. There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria. Progeria appears to affect children of all races equally. Over the last 15 years the following countries have had reported cases - Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavi. Children with Progeria are born looking healthy. When they...
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...Progeria Progeria is a rare genetic disease that causes children to age faster than usual. According to an article by Christian Nordqvist, “The condition is extremely rare, affecting around 1 in every 4 million children”. Signs of progeria are not noticed until the age around two. Progeria, also known as Hutchinson-Gilford progeria syndrome, is caused by a gene mutation. “Most children with progeria have a mutation on the gene that encodes for lamin A, a protein that holds the nucleus of the cell together” (Nordqvist). The defective protein makes the nucleus unstable, making the cell more likely to die younger. This creates indications of progeria. Even though a parent does not have progeria, the mutation may still be present. Genetic testing can indicate if...
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...Progeria Intro What is progeria? I. The name progeria stems from the Latin and Greek words pro and geraios and means literally, 'early old age'. The disease is also known as the Hutchinson-Gilford syndrome, after the physicians who first described it, Hutchinson in 1886 and Gilford in 1904. Children with progeria usually have a normal appearance in early infancy. At 9 to 24 months of age, affected children begin to experience profound growth delays, resulting in short height and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw; malformation and crowding of the teeth; a small nose; prominent eyes and a subtle blueness around the mouth. In addition, by the second year of life, alopecia develops, and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually bulging veins of the scalp, loss of the layer of fat beneath the skin, defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. According to Steve Roach, author of Neurocutaneous disorders, individuals with HGPS develop premature, widespread thickening and loss of elasticity of artery walls, which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease...
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...A gene mutation is a permanent change in the DNA that makes up a gene. The changes in a gene are called mutations. Mutations can range in size they can affect a single DNA building block to a big part of a chromosome that includes many genes. Serious disorders like Sickle- cell anemia, Spinal muscular atrophy, Turner syndrome, and Progeria are caused by a mutation in a single gene. Sickle- Cell Anemia is a disorder that affects the hemoglobin, a molecule in the red blood cells that delivers oxygen to the cells. The signs and symptoms of sickle cell disease happens in a child's early childhood. Some of the features of the disorder are having a low number of red blood cells, repeated infections, and occurring episodes of pain. The symptoms...
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...Prevention, in the United States alone one out of thirty-three children display having a birth defect before and at delivery (“Facts about Birth Defects” par. 1). By knowing the impact birth defects have on society cause a worry for mothers-to-be and families wanting a child of their own. Some families will search for ways to stop or prevent the child conducting these life changing aspects. With this social problem rising throughout different countries, a multitude of studies and research are becoming prominent to furthering the solution or finding prevention plans of specific birth defects that occur in unborn children. There are many forms of birth defects in a society that affect the fetus such as Spina Bifida, Hutchinson-Gilford Progeria Syndrome (HGPS), Down Syndrome, Congenital Heart Defects, Cleft Lip, Cleft Palate, Cerebral Palsy, Autism, and plenty more. In all of the specific types not every expectant mother or family will know what the child will have till the due date gets closer or if the child even has a birth defect. On the site, American Pregnancy, “over 60% of birth defects are not known”. As for the unknown, there is always an overall precaution a mother can take to reduce common birth defects. The cautions are eliminating any harsh substances (alcohol, tobacco, drugs, etc.), eating healthy for the mom and the child, taking 400 mg of folic acid, exercising, and check-ups ("Preventing Birth Defects" par. 1-8). Sixty percent is a high rate for an unknown birth defect...
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