Free Essay

Progeria

In:

Submitted By qienah
Words 1184
Pages 5
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: GGCGGT
1 out of 20: GGCAGC
1 out of 20: GAGAAG
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.weebly.com/upload s/5/8/7/9/5879933/4698219.png

Truncated Lamina A: Progerin
Normal Wild-type Lamina contains two modif cations i (attachments): the farsynal group and the terminal group. Removal of two groupssuccessful integration into Nuclear Membrane.
Truncated Lamina A (Progerin): does not have terminal group. Cannot successfully integrate, and messes up integration of future Laminas.
Lamina keeps stable structure
And Progerin ruins it; nuclear lamina
Becomes lobular. Funky Nuclear Lamina 

Reverse Transcriptase Polymerase
Chain Reaction
 mRNA is copied into DNA by using a oligo dT primer.

Certain Heat-Stable DNA polymerase known as Taq polymerase is used for further transcription
 Denaturization of DNA
 mRNA primers added to separate DNA strands. Taq

polymerase starts to add on base pairs from the RNA primers. Total of 4 strands from 1 mRNA.

Effects

 Most prevalent of rapid aging symptoms: hair loss early ,

bulging out eyes, visible veins on body and head, Eggshaped head, atheroscleosis, deformed bones, calcium loss, and other growth deformities

Treatment
Macro and Molecular
Macro:
 Giving increased Growth hormone
 Give medication to reduce fat buildup in the Coronary
Arteries, or coronary bypass surgery
 Cao et al. (2011): rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. (ONIM)
Molecular:
 Glynn and Clover (2005): farnesylation inhibition
(ONIM)

Conclusion: Recap
 Progeria is a disease that causes rapid aging and is caused

by a base-pair substitution in the LMNA gene.
 Effects include abnormally projecting eyes and other growth defects
 Treatments include FTI’s that inhibit the progerin from reaching nucleus, increased supplements of Gh and calcium, and medication to reduce effects of atherosclerosis Thank You
Questions?

Bibliography
 Anonymous, 2007. New Clues for Treatment. The Pediatrics. (Retrived from:











http://www.medicalnewstoday.com/articles/69728.php
Badame A.J. (1989): Progeria; Archives of Dermatology : 125:1-5
Brown WT, Zebrower M, Kieras FJ (1985); Progeria, a model disease for the study of accelerated aging. Basic Life Science: 35:375-396.
Brown, W.T., Kieras, F.J., Zebrower, M., (1986). Urinary hyaluronic acid elevation in Hutchinson-Gilford progeria syndrome. Mechanisms of Ageing and Development.
35(1): 39-46.
Brunak, S., Engelbrecht, J., Knudsen, S., 2004. Prediction of human mRNA donor and acceptor sites from the DNA sequence. Journal of Molecular Biology. 220 (1):
49-65
Chong, A., Zhang, G., & Bajic, B.V., (2006). Information for the Coordinates of
Exons (ICE): a human splice sites database. Genomics. 84(4): 762-766.
Columbaro, M., Capanni, C., Mattioli, E., Novelli, G., Parnaik, V. K., Squarzoni, S.,
Maraldi, N. M., and Lattanzi G. Rescue of heterochromatin organization in
Hutchinson-Gilford progeria by drug treatment. Cellular and Molecular Life
Sciences. 62(22): 2669–2678.
ONIM

Bibliography
 Csoka, A.B., English, S.B., Simkevich, C.P., Ginzinger, D.G., Butte, A.J., Schatten,








G.P., Rothman, F.G., Sedivy, J.M. (2004). Genome-scale expression prof ling of i Hutchinson–Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Ageing Cell. 3(4):235-243
De Busk (1972). The Hutchinson-Gilford progeria syndrome. Journal of Pediatrics.
80 (4): 697-724.
Delbarre, E., Tramier, M., Coppey-Moisan, M., Gaillard, C., Courvalinand, J.C,
Buendia, B., (2006). The truncated prelamin A in Hutchinson–Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. Human
Molecular Genetics. 15 (7):1113-1122.
Demmer, L., Sadeghi-Nejad, A. (2007). Growth hormone therapy in progeria.
Journal of Pediatrics for Endocrinal Metabolism. 20 (5): 633-637.
Dr. Margaret Hunt. “Real Time PCR”.
Erikkson et. al (2003) Recurrent de novo point mutations in lamin A cuase
Hutchinson-Gilford Progeria Syndrome. Nature 423(6937):293-298

Bibliography

 Fong, L.G., Frost D., Meta, M., Qiao, X., Yang, S.H., Coff nier, C., & Young, S.G. i 









(2006). A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse
Model of Progeria. Science. 311( 5767): 1621-1623.
Gilford H (1904). Progeria: a form of senilism. Practitioner 73:188-217.
Gilford H; Shepherd, RC (1904).
Ateleiosis and progeria: continuous youth and premature old age. The British
Medicine Journal. 2 (5157): 914–8.
Hutchinson J (1886). Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost totally bald from alopecia areata from the age six. Mediochir Trans 69:473-477.
Keay, A.J., Oliver, M.F., Boyd, G.S., (1955). Progeria and Atherosclerosis. Archives of Disease in Childhood. 30 (410-414).
Khalf a, M.M (1989). Hutchinson-Gilford progeria syndrome: report of a Libyan i family and evidence of autosomal recessive inheritance. Clinical Genetics. 35 (2):
125-132.
Manschot, W.A. (1950). A Case of Progerianism (Progeria and Gilford). Acta
Paediatrica. 39 (1): 158-164.

Bibliography
 Melissa A. Merideth, et al. (2007). Phenotype and Course of Hutchinson–Gilford










Progeria Syndrome. The New England Journal of Medicine. 358 (6).
Nathan, M., Mertz, L.M., Fox, D.K. (2001). Optimizing Long RT-PCR. Focus.
17(3): 78-80.
Navarro, C.L. et al. (2004). Expand+Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Human Molecular Genetics. 13 (20): 2493-2503.
Ozonoff, M.B., Clemett, A.R., 1967. Progressive Osteolysis in Progeria. American
Journal of Roentgenology. 100 (75-79).
Rautenstrauch,T., Snigula, F., Krieg, T., Gay, S., & Müller P. K. (1977). Progeria: A cell culture study and clinical report of familial incidence. European Journal of
Pediatrics. 124 (2):101-111.
Renee V. et al.: Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson–Gilford progeria syndrome: National Academy of Sciences. 3 (9):
3250-3255.
Sarkara, P.K., Shintonb, R.A. (1989). Hutchinson-Guilford progeria syndrome.
PostDoctorate Journal of Medicine. 77:312-317.

Similar Documents

Premium Essay

Progeria

...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...

Words: 892 - Pages: 4

Premium Essay

Progeria Research Paper

...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...

Words: 667 - Pages: 3

Premium Essay

Hutchinson Gilford Progeria Research Paper

...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,...

Words: 319 - Pages: 2

Free Essay

Progeria Informative Speech

...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...

Words: 641 - Pages: 3

Premium Essay

Hutchinson Gilford Progeria Syndrome Research Paper

...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....

Words: 433 - Pages: 2

Premium Essay

Hutchinson-Gilford Progeria Syndrome

...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...

Words: 859 - Pages: 4

Premium Essay

Hutchinson Gilford Progeria Research Paper

...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...

Words: 663 - Pages: 3

Premium Essay

Hutchinson-Gilford Progeria Syndrome (HGPS)

...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....

Words: 430 - Pages: 2

Free Essay

The Curious Case of Benjamin Button Expose

...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...

Words: 567 - Pages: 3

Free Essay

New Hope in the Fight Against Rare Aging Disorder & the Milky Way Timeline

...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 ...

Words: 434 - Pages: 2

Free Essay

Progeria

...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...

Words: 1143 - Pages: 5

Premium Essay

Progeria

...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 Introduction​4 An international problem​4 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 it​6 Portable juice bars​6 Providing you with a high profit rate​6 Job and training opportunities​6 Know everything about our products​6 Advisory board service​7 Product safety insurance​7 No usage of external markets​7 Take into consideration student’s affordability​7 Conclusion​7 Introduction ...

Words: 1891 - Pages: 8

Premium Essay

Spinal Muscular Atrophy And Progeria

...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...

Words: 790 - Pages: 4

Premium Essay

Essay On Harmful Mutation

...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...

Words: 1213 - Pages: 5

Premium Essay

Indian Culture

...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...

Words: 425 - Pages: 2