Preview

What Is Hutchinson-Gilford Progeria Syndrome?

Good Essays
Open Document
Open Document
636 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
What Is Hutchinson-Gilford Progeria Syndrome?
Hutchinson-Gilford progeria syndrome is a gene disorder characterized by the rapid aging in the beginning stages of childhood. The children affected by HGP may look ordinary at birth and in the early stages of life, but soon they will begin to develop more slowly and not gain weight at a healthy rate. The syndrome will affect the child’s appearance and development. HGP is a serious childhood disorder that can really affect, not only the child, but the family as well.
To start off, the cause of HGP is when the LMNA gene mutates. The LMNA provides instructions for the making of lamin A, a protein needed for the shaping of the nucleus in a cell. Lamin A lies in the membrane of the nucleus determining the shape and strength of the nucleus. This protein is very
…show more content…
This means the doctors look for differences in the gene for the hereditary characteristics in exon 11. HGP makes the child look abnormal in the early years of life. One can really only detect HGP when they see the physical changes in the child. HGP is a rare condition and only one in four million children worldwide are affected, so detecting it is not that hard. HGP can show up in a child whose family has no history with the condition. In brief, the condition is considered autosomal dominant, which means one copy of the altered gene is good enough to cause the

You May Also Find These Documents Helpful

  • Powerful Essays

    sporadic new mutation, which happens at conception. Therefore, as mentioned above, the diagnosis must be made…

    • 1791 Words
    • 8 Pages
    Powerful Essays
  • Better Essays

    The condition is diagnosed through genetic testing. It is specifically DNA-based methylation testing to distinguish the absence of the paternal chromosome; chromosome 15.This test is recommended for new borns with pronounced hypotonia (praderwillisyndrome, 2010). An early diagnosis allows for early intervention as well as early provision of growth hormone (GH) treatment. GH gives an increased muscle mass and supports linear growth. GH…

    • 2227 Words
    • 9 Pages
    Better 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
  • Better Essays

    will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…

    • 924 Words
    • 4 Pages
    Better Essays
  • Satisfactory Essays

    Is an autosomal dominant disorder, which means that one abnormal copy of the gene is all that is needed to have symptoms. Typically, this means that one parent has the disease, but it is possible to have the gene as a result of a new mutation not present in the parents, or it is possible that a parent has the gene but is not expressing symptoms enough to be clinically evident. Typically, someone will first show clear signs of hypokalemic periodic paralysis sometime in the teens, but careful observation and knowledge of the paralysis triggers, the disease can be recognized earlier and in higher percentages of those carrying the gene abnormality.…

    • 351 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Progeria is known as Hutchinson-Gilford Progeria Syndrome (HGPS). Progeria is a mutation that occurs within your genes. This disorder is extremely rare but fatal. In the gene Lamin A is the mutated protein gene. LMNA is responsible for giving instructions to make the protein Lamin A within the cell. This protein, Lamin A, is necessary for holding the center of a cell together, known as the nucleus (Progeria Research Foundation). The failure of LMNA results in making all the cells destabilized. The failure of LMNA can change the health and appearance of a new born baby and change their life.…

    • 946 Words
    • 4 Pages
    Good Essays
  • Good Essays

    DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…

    • 354 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Progeria, also known as Hutchinson - Gilford Syndrome is a rare, genetic disease which occurs in an unborn child. It is mainly occurs due to the mutation in LMNA gene. LMNA gene is the gene which synthesizes or encodes mRNA which in turn synthesizes protein, lamin A and lamin C. Scientists are researching for the cause of progeria because knowing its cause can help us to know the cause of aging in a normal people.…

    • 192 Words
    • 1 Page
    Good Essays
  • Best Essays

    Progeria

    • 3350 Words
    • 14 Pages

    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.…

    • 3350 Words
    • 14 Pages
    Best Essays
  • Better Essays

    The primary form of Hemophagocytic Lymphohistiocytosis is a genetic disorder. About one in every 200,000 children is diagnosed with Familial HLH. In most cases around 70-80%, develop symptoms before the age of 1 and approximately 10%, experience symptoms within the first 4 weeks of life. In the same family, children with familial HLH usually develop symptoms around the same age. 
FHLH can be inherited in either an autosomal recessive manner or in an x-linked manner. (What is HLH? 1.) The autosomal recessive manner takes place when the child has two copies of the abnormal gene, one from each parent. In the x-linked case, the mother passed an abnormal x chromosome to her son. FHLH is accountable for only 25% of all HLH cases. (“questions and answers” 1.) If two carriers of this disease mate there will be a 25% chance that their child will have HLH by the time its 2 years of age. To date there are only 9 genetic causes of the primary form that have been discovered, which is only about 50% of all childhood cases in the United States. (What is HLH? 1.)…

    • 1073 Words
    • 5 Pages
    Better Essays
  • Better Essays

    Progeria Syndrome

    • 1125 Words
    • 5 Pages

    Progeria is an extremely rare genetic disease which causes young children to age very rapidly. This condition is from the Greek word for old age “geras.” It is estimated that it only affects one in four million newborns throughout the world. A newborn typically will appear normal. Within the year the child’s growth rate decreases and they look shorter and weigh much less than other children around their age. The appearance of these children becomes looking like an older person, such as “baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (What do we know about heredity and progeria? 2011). There…

    • 1125 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
  • Better Essays

    Progeria Research Paper

    • 941 Words
    • 4 Pages

    This mutation makes the normally smooth, round nuclei knobby and rough (Bhattacharya 1-2). Sir Jonathan Hutchinson observed the first case of Progeria in 1886 (Gordon 1). The next case was described eleven years later by Hastings Gilford, thus where the full name, Hutchinson-Gilford Progeria syndrome, came from (Bhattacharya 1). The chance of a baby to be born with Progeria is one in four million. If a parent has already had one child with Progeria, the chances of their next baby to get the disease rise to between two and three in one hundred (“Progeria Handbook” 1).…

    • 941 Words
    • 4 Pages
    Better Essays
  • Good Essays

    Progeria

    • 571 Words
    • 3 Pages

    Imagine having one of the rarest genetic diseases in the world: Progeria. Also known as Hutchinson-Gilford Progeria, this disease classifies only 50 patients worldwide. In 2007, the Children’s Hospital Boston aimed at enhancing the life for children with Progeria. The Progeria Research Foundation (PRF) and many other agencies aided the hospital with this goal of finding treatments and cures to increase the life duration of Progeria victims. Measures and observations taken in this experiment were noted on the various symptoms such as alopecia (baldness), short height, subcutaneous fat (fat under the skin), bone integrity, limb and dental abnormalities, and cardiovascular problems.…

    • 571 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Progeria

    • 961 Words
    • 4 Pages

    Progeria (Greek pro, "to, for" and geron, "old") is a genetic disease of childhood extremely rare, characterized by an abrupt and premature aging in children between their first and second year of life. It is estimated to affect one in 8 million live births. Not shown preference for any particular gender, but many more have been reported white patients (97% of affected patients). Progeria can affect different organs and tissues: bone, muscle, skin, subcutaneous tissue and vessels.…

    • 961 Words
    • 4 Pages
    Good Essays