...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 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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...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, 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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...HGPS is distinguished by signs of untimely aging most recognized in the skin, cardiovascular systems, and musculoskeletal systems. Hutchinson-Gilford progeria syndrome (HPS) is an extremely rare hereditary disease that affects the vascular, musculoskeletal system, and the skin. HGPS can cause mutations in LMNA that results in the production of an abnormal form of Lamin A termed progerin. LMNA is a protein that in humans is encoded by LMNA gene. Newborns with HPS may have certain dubious findings present at birth, such as shiny, hardened skin over the butt, upper legs, and abdomen; discoloration of the skin; and a chisel nose. Progressive growth retardation usually becomes evident by 24 months of age, resulting in shortened height and weight....
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...educational and promising. Working with the leading scientist in the aging field, Professor David Sinclair, this article expressed one particular disease of aging relating to progeria patients. Formerly known as “Hutchinson-Gilford” syndrome, the rapid aging process in children with progeria causes serious diseases associated with aging. These precious children with progeria are able to play, laugh and love like other healthy children but “look old, thin, and suffer cardiovascular problems and usually live on average to the age of 12” (Johnson, 2011). Children with progeria suffer many of the same problems afflicted by aging – hair loss, bone density and fatigue. The article stated that scientists in Boston were experimenting with an “old drug” to help progeria patients. Scientific Method The National Institute of Health and doctors at Children’s Hospital will begin clinical trials using cells from progeria patients in the laboratory. Scientists will introduce to these diseased cells an altered drug referred to as “rapamycin, a transplant rejection medication shown in a dramatic 2009 study to significantly lengthen the lifespan of mice” to eliminate the abundance of the protein progeria (Johnson, 2011). Observation In observing these cultures, scientist will be able to confirm that the progeria mutant has been lessened or removed from the cells. If this is the case, further research can be conducted in applying the drug to patients with the disease. Hypothesis ...
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...seamlessly 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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...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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...American University Of Science And Technology English & Translation Department BUSINESS COMMUNICATION – MGT300 BUSINESS REPORT PROJECT By: Alaa El Dine KIBBI To: Mr. Christopher MATTINGLY Fall 2012-2013 A&RK Co Sidi Hassan Street, Nwairy, Beirut, Lebanon Tel 961-01 020 030- website: www.healthyisyourfutur.com Email: healthyisyourfutur@gomail.com January 14, 2013 School board Lebanese International School 1280 Spring Lake Drive Belvidere, Illinois, 9123 Subject: Proposal No. JB-007 for Lebanese International schools, Food And Beverages Service Dear, School Board of LIS A&RK co. is please to submit the following proposal to provide your school with Food and Beverage services. Our company has been in running espresso and juice stands in malls and on street corners since almost a decade and has numerous successful investment in Lebanon and outside like Middle-East and the gulf. Please find attached a complete proposal of our company to your school. Table of Contents Introduction4 An international problem4 Are Schools promoting junk food?!!4 Is it affecting schools?5 What does this means?5 So what should you do?5 How to do it6 Portable juice bars6 Providing you with a high profit rate6 Job and training opportunities6 Know everything about our products6 Advisory board service7 Product safety insurance7 No usage of external markets7 Take into consideration student’s affordability7 Conclusion7 Introduction ...
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...existing in human beings. It is a serious disorder in which the body makes crescent shaped red blood cells instead of the normal disc shaped ones. Sickle cells contain abnormal hemoglobin and are sticky and stiff. They block the flow of blood in the body organs and limbs thus causing pain and organ damage. Sickle cell anemia is an inherited and lifelong disease. The people having this disease are born with it. They inherit two genes for sickle hemoglobin, one from each parent. 2. Progeria This genetic disorder is very rare as well as severe. A mutation in LMNA gene causes this disease. It is a disease in which the process of aging is accelerated. A thirteen year old child having this disease could look like a really old person. Most children having Progeria mostly die of age-related diseases around the age of thirteen. Very few survive to be twenty years old. The cause of death is usually heart attack or stroke. As few as one in eight million live births are affected by it. Symptoms of Progeria include full body baldness, growth impairment, bone abnormalities, rigid skin and a characteristic sculptured nasal tip. 3. Epidermodysplasia Verruciformis It is an extremely rare autosomal recessive genetic hereditary skin disorder. It is also known as “tree man illness. It makes the people vulnerable to widespread human papillomavirus (HPV) infection .This infection causes the growth of scaly macules and papules to grow on feet, hands and even face. These skin “eruptions” emerge...
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...Jennifer Primm After listening to my speech the audience will know why using manners are important in our everyday lives. Introduction: Manners are something people should use everyday to make a good impression on others and to feel good about ourselves. No matter where we are … at home, work, or with friends, practicing good manners is important in our society. Body: I. Manners are important to have A. They are a form of caring B. Manners allow society to communicate with fewer misunderstandings. II. Types of manners that we should use everyday A. Please, thank you, holding a door for someone B. Hanging up your cell phone when you are going through a check out line III. Don’t think a person needs manners? A. Just try to say please when you ask for something and see how different a person reacts to your kindness B. Practicing good manners not only can make your day better but someone else’s just by being courteous C. You can get through Life with Bad Manners but it’s a lot easier with good manners, According To famous Actress Lillian Gish Conclusion: In conclusion, manners are extremely important in society and our everyday lives. It shows people that you are caring and a polite person. Manners allow us to have few misunderstands and get along with people in society. Simple words people can use everyday will show they have manners. Examples of certain manners are the words please and thank you. Also holding the door for someone is a great...
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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...
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...The Ageing Process “How Our Bodies and Minds Change” Aging is a process that concerns us all. The increasing armamentarium provided by molecular biology and other techniques has allowed greater understanding of some of the processes involved. Numerous definitions of aging exist; an acceptable and commonly used definition is that aging is the total of all changes an organism undergoes from its conception to its death, including development, maturation and adulthood. There are many theories about how our bodies and minds change as we age, but no matter how much research or theories have been formed, one thing remains true is that our bodies and minds does, and will, change with age and one thing can be agree upon is that the end results in all these studies is that the body and minds does go through many changes during our life time. Since the life span varies between and within species and human longevity is partially hereditary, it is clear that genetic factors, the biology of the brain, and our culture effect the function of the brain and influence the aging process ( Johnson 1993, Schacter et al. 1993, Vijg et al. 1995). Twin studies show that genetic differences account for about a quarter of the variance in adult human lifespan. While a great deal of research has focused on diseases of aging, there are only a few informative studies on the molecular biology of the aging brain. Many molecular changes are due in part to a reduction in the size of the brain, as well as loss...
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