Preview

Progeria

Best Essays
Open Document
Open Document
3350 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Progeria
Hutchinson-Gilford Progeria Syndrome

Abstract
Hutchinson - Gilford syndrome, or Progeria, is an extremely rare genetic disorder when children age at a tremendous pace. Although children born with Porgeria tend to look healthy, they begin to display many characteristics of fast-tracked aging around 18-24 months. These children develop growth failure, a loss of body fat and hair, aged-looking skins, stiffness of joints, cardiovascular disease and strokes. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years). Progeria is extremely uncommon; only about one out of eight million people have it. Ninety percent of children with Progeria have a mutation on the gene that encodes the protein lamin A, and usually occurs (without cause). Progeria fell to my interest because these patients touch the heart of many human beings with their struggles of aging and death at a very young age. This paper will give you all the basic details of the genetic disorder, displaying and answering what Progeria is, the causes, journey and treatments. Many of the resources are from books, journals, and websites. Old at age 3 by Zachary Moore, and W. Ted Brown’s and Frank Rothman’s (title of book chapter is from) chapter entitled the “Hutchinson-Gilford Progeria Syndrome” are some helping book sources. Also I found journals on PubMed, and information from internet sources, such as the Progeria research foundation.

Outline
I. Intro
A. Intro thoughts
B. Definition
C. Thesis
II. Progeria
A. Definition
B. Origin
C. Inheritance
D. Life expectancy
E. Founders
III. Epidemiology
A. Progerian population
B. Location where found
C. Ethnicity
D. Appearance
IV. Symptoms
A. Physical Appearance
1. Growth failure
2. Loss of body fat and hair
3. Aged looking skin
4. Enlarged skull
B. Health Problems
1. Stiffness of joints,
2. Hip dislocation
3. Generalized atherosclerosis
4. Cardiovascular disease
5. Stroke
V. Causes
A.



Cited: "Functional Coupling between the Extracellular Matrix and Nuclear Lamina by Wnt Signaling in Progeria." Developmental Cell 19.3 (2010): 413-25. Print. Hui Liu, Guang Gilford Progeria Syndrome." Nature: International Weekly Journal of Science 1st ser. 1.1 Hutchinson (2011). Print. Online, Credit Card "Human Progeroid Syndromes, Aging and Cancer: New Genetic and Epigenetic Insights into Old Questions." Cellular and Molecular Life Sciences 64.2 (2007): 155-70. Print.

You May Also Find These Documents Helpful

  • Satisfactory Essays

    Our son Lorenzo has a degenerative genetic disease called Adrenoleukodystrophy. This heartless disease is result of having a female parent that is a carrier. The symptoms go from tantrum fits, to losing physical and cognitive abilities to, eventually death. This is all due to the build up of long chained fatty acids building up on the myelin in the brain caused by the disease.…

    • 342 Words
    • 2 Pages
    Satisfactory Essays
  • Satisfactory Essays

    case study

    • 367 Words
    • 1 Page

    Mr. Newman had a genetic screening done that showed a mutation on Chromosome 16. This particular type of mutation results in the formation of an abnormal membrane protein called polycystic, which was inherited from one of his parents. The mutation takes place in 1 or 2 homologous chromosomes. Being as though Mr. Newman only has one copy the disease was able to lie latent for many years. As a result he now has two abnormal polycystin genes. Polycystin genes act as receptors for extracellular growth.…

    • 367 Words
    • 1 Page
    Satisfactory Essays
  • Good Essays

    Fibrodysplasia ossificans progressive, more commonly known as ‘Stone Man’s Syndrome’ or the abbreviation ‘FOP’, is genetic disease involving the body’s connective tissue. It is one of the medical world’s most rare and debilitating illnesses. As its common name says, Stone Man’s Disease causes “bone tissue begins to grow where muscles, tendons, and other connective tissues should be, effectively restricting movement” (Torres, 2013). As a result, the boy’s ligaments, tendons, and muscles form into solid bone. The individual with the disease will eventually develop a second skeleton over top of his/her original one (Panter, 2013). Fibrodysplasia ossificans progressive is the only documented medical condition in which a normal functioning organ system turns into another (FOP, 2009). Because “the heart and other organs are made up of a different kind of muscle, they do not grow bone tissue” and remain unaffected by the disease’s effects (Torres, 2013).…

    • 878 Words
    • 4 Pages
    Good Essays
  • Powerful Essays

    The cause of Progeria is unknown as of yet. Because of its very rare nature, no definite cause can be pinpointed. However it is determined to be generic. In other words, it is thought that it is due to single mutated gene and each case might represent a single…

    • 1791 Words
    • 8 Pages
    Powerful Essays
  • Good Essays

    Tay Sachs Disease Essay

    • 853 Words
    • 4 Pages

    It is caused by the presence of the homozygous recessive gene on chromosome 15 that codes for the production of hexosaminidase-A (Hex-A). Since the body has no HexA, a fatty substance is allowed build up abnormally in nerve cells, which eventually damages the cells and the brain. When a child is two years old, they will suffer seizures and degrading mental function. Their mental abilities continue to worsen to a point of paralyses and blindness, and death comes around age five.…

    • 853 Words
    • 4 Pages
    Good Essays
  • Satisfactory Essays

    During this talk held in Washington D.C on October 2013, Sam Berns a 17 year old who suffers from a strange disease called “Progeria,” explains how this condition has only allowed him to live a happier life. According to the speaker this is an extremely rare disease that affects approximately 350 kids worldwide. It is characterized for giving children a premature aging aspect and the most common symptoms are: growth failure, loss of hair and body fat, heart disease and aged looking skin.…

    • 628 Words
    • 2 Pages
    Satisfactory Essays
  • Satisfactory Essays

    Case Analysis and Report

    • 611 Words
    • 5 Pages

    1. The data bellows shows that those who plan to marry anticipate using bridal magazines and travel magazines the most to research for their dream honeymoon destination. Video rental stores and jewelry stores are less likely to be researched according to the survey data results. Since by the descriptive statistics data states that the median is $64,000, I will establish that the higher income bracket be represented by $64,000 or above and lower income below $64,000. By the data it shows that individuals with higher incomes are more likely to be interested in the honeymoon destinations video. It also shows that as the income of the individuals surveyed increases the amount that they are willing to pay for the videos also increase. A positive correlation is a result between their income, interest, and the amount that they are willing to pay for the video.…

    • 611 Words
    • 5 Pages
    Satisfactory Essays
  • Good Essays

    The name of my disease is Marfan Syndrome. It is also known as Marfan's. Antoine Marfan discovered it in 1896. It's found in both genders, and all ethnic groups. Marfan syndrome is an Autosomal Dominant disorder. 75% of all cases are inherited, 25% are caused by a mutation on the 15th chromosome. Features of Marfan's include unproportional limbs, victims are usually very tall, severe nearsightedness(caused by lens dislocation) lungs have more elasticity, which can result in spontaneous collapsed lungs(pneumothorax), flat feet, high roof of mouth, and others. Victims cannot put much strain on their heart, so they can't persorm many physical activities. They undergo many tests for teh rest of their lives. Marfan's can be described as connective tissue disorder affecting the heart, eyes, lungs, and skeletal muscles. Externally, Marfan's appears to make people natural atheletes, making them very tall, with long arms and legs. Interanlly, it causes fatal heart problems, severe nearsightedness, very flexible joints, and could cause spontaneous pneumothorax. Problems associated with Marfan's are mitral valve prolapse, aortic root dilation, and glaucoma, along with others. Marfan's is very physically limiting for a victim with cardiac symptoms, if too much strain is put on the heart, it could burst. Treatment is possible for Marfan's. A sufferer could be put on beta blockers to slow aortic root dilation or a surgery could replace a weak aorta with a strong one. External symptoms, however, cannot be treated. There is no cure, or therapy, for the disorder. Marfan's can be detected before teh symptoms appear by a DNA sample. It can also be detected prenatally by amniocenteses. There are no carriers of the disease, only victims. Nothing can be done to stop te disease. It is important to continue research because it is a fatal disease, and it lowers the life expectancy of a victim over 30…

    • 306 Words
    • 1 Page
    Good Essays
  • Better Essays

    Case Study: Bruce /Brenda

    • 1814 Words
    • 8 Pages

    “True cases of GID are fairly rare and occur in only 3 to 5 percent of the U.S. population (Meyer)”. The exact cause of GID is unclear, however “hormones in the womb, genes, and social and environmental factors (such as parenting) may be involved (NLM)”. Observable symptoms almost always present in early childhood.…

    • 1814 Words
    • 8 Pages
    Better Essays
  • Good Essays

    This disease is interesting to me because I have a friend diagnosed with this disease. If you take a quick glance at him you could tell that he has unusual body features. These are conditions to being diagnosed with Marfan syndrome.…

    • 675 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    Prosopagnosia

    • 1484 Words
    • 6 Pages

    Every day a married man wakes up next to a woman he doesn’t recognize. No, he hasn 't been unfaithful; he has prosopagnosia, the inability to recognize or distinguish faces. The woman is his wife, but when he looks at her, he can’t tell who she is. It’s not a memory problem; if you tell the man his wife 's name or if he hears her voice he knows her very well.…

    • 1484 Words
    • 6 Pages
    Powerful Essays
  • Satisfactory Essays

    How does this disorder affect the body? Be specific – which parts of the body does it affect, and how.…

    • 347 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Laron syndrome is another inherited endocrine disorder in which a person is unable to use growth hormone. The child will appear normal at birth, but then grow very slowly and be significantly shorter than people who can process growth hormone. People with this disorder commonly have less muscle and lower blood sugar, as well as smaller genitals and protein deficiencies. They are also more at risk for become obese. Mutations in the GHR gene are responsible for Laron syndrome (GHR 2015c).…

    • 753 Words
    • 4 Pages
    Good Essays
  • Better Essays

    epigenetics

    • 1218 Words
    • 5 Pages

    D. Ziech, R. Franco, A. Pappa, V. Malamou-Mitsi, S. Georgakila, A. G. Georgakilas. (2010) The role of epigenetics in environmental and occupational carcinogenesis. Vol. 188 .340–349. Available at:…

    • 1218 Words
    • 5 Pages
    Better Essays
  • Good Essays

    What would you do if at the age of one years old you started to look like a decaying human being? One in eight million children face this problem. The disease is called Progeria (also known as Hutchinson-Gilford Progeria Syndrome.) Progeria is a very rare terminal condition. Progeria, affects both males and females of all ethnic backgrounds. The term Progeria comes from the Greeks and it means "prematurely old". In the following paragraphs I will be discussing symptoms of Progeria, treatments, and other facts about this rare but serious disease.…

    • 252 Words
    • 2 Pages
    Good Essays