Progeria

650 Words2 Pages
bulb-icon

Recommended: Progeria symptoms and progression

Imagine giving birth and your newborn is perfect in every, only to find out in three months or so there is something severely wrong. That is how it starts with Progeria also known as Hutchinson-Gilford Progeria Syndrome. HGPS is a extremely rare genetic disorder that causes a child to prematurely age shortly after birth. It not only affects the appearance of the child but also the overall health. Progeria is a very terrible and deadly disease that hopefully we find a cure for soon.
About Progeria
What is it, is it hereditary. Dr. Jonathan Hutchinson first described Hutchinson-Gilford Progeria Syndrome in England in the year 1886. Later in 1897 Dr. Hastings Gilford described the disease in greater detail. The name Progeria is derived from the Greek word Geras, which means old age. HGPS is a genetic mutation that is passed down to the child when both parents carry the mutated gene called LMNA. The LMNA gene holds the nucleus of a cell together. An abnormal LMNA gene is called Progerin and that is what causes the child to prematurely age. HGPS is considered a “sporadic autosomal dominate” mutation, which means sporadic because it could be new in that family and dominant because only one copy of the gene is needed to have the syndrome. If the parents never had a child with Progeria their chances are one in four to eight million. But if the family already has a child with Progeria their chances are raised to about two to three percent. The increase in the chances is due to a condition called “mosaicism” that means that a small portion of the parents cells have the genetic mutation for Progeria.
Symptoms. Within the first year of life a child with Progeria will start to display symptoms. Signs and symptoms of HGPS include s...

... middle of paper ...

...n of primary teeth to help prevent overcrowding. There is currently a investigational treatment going on. It is a drug in which was developed for treating cancer. Farnesyltransferase Inhibitors or FTI’s have shown great promise in correcting cell’s with defects that cause Progeria in laboratory studies. The use of FTI’s is correctly undergoing clinical trials in humans with Progeria.
Conclusion. Learning that your child has Hutchinson-Gilford Progeria Syndrome if truly devastating. Progeria is extremely rare so it is difficult for researchers and scientists to find a cure. At this time HGPS is one hundred percent fatal for the child. Aging is difficult for everyone to go through, for example your appearance and over health change. Imagine being a small child and knowing that you are going to die young and there is nothing you or your parents can do about it.

Show More
Related

  • TED Talk Rhetorical Analysis

    1172 Words  | 3 Pages

    Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when

    Read More

  • Bovine Spongiform Encephalophathy

    976 Words  | 2 Pages

    ...is a disease that runs in families and prevents people from sleeping, causes motor and emotional problems, and is eventually a killer. GSS was linked to two mutations in the prion gene in 1989. Prion fragments accumulate in the brain in

    Read More

  • hemophilia

    2023 Words  | 5 Pages

    Hemophilia is a genetic bleeding disorder. People who have hemophilia have a deficiency or an absence of a coagulation protein. A blood clotting factor is deficient or absent. Bleeding is most often into joints, such as the knee, elbow, or ankle, but bleeding can occur anywhere in the body. People with hemophilia bleed longer, not faster.

    Read More

  • The Genetic Conditions of the Waardenburg Syndrome

    855 Words  | 2 Pages

    (Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).

    Read More

  • Pros And Cons Of Williams Syndrome

    883 Words  | 2 Pages

    A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.

    Read More

  • Progeria: Adolescents Living in the Bodies of the Elderly

    1090 Words  | 3 Pages

    The main cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and fifty nucleotides encoded in exon eleven to be spliced out of the final mRNA and results in a protein that lacks 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has taken place, the cells begin to synthesize abnormal lamin A proteins known as Progerin. Newly produced Progerin still have the attached farnesyl group engendering the Progerin to connect to the nuclear membrane permanently. Due to thi...

    Read More

  • Hutchinson Gilford Progeria Syndrome Essay

    848 Words  | 2 Pages

    There are less than three hundred cases of Hutchinson Gilford Progeria Syndrome in the world.(Asselin, 2014) The possibility of being born with it is obviously extremely small. Even though the possibility is small, the need to know about it and understand it is great. The people impacted by HGPS are merely children. They are innocent children with their lives cut short. All of this happens because of a small change in their genes.

    Read More

  • The Language of Life by Francis S. Collins

    1413 Words  | 3 Pages

    Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...

    Read More

  • Leo Kanner And Asperger Syndrome

    801 Words  | 2 Pages

    The cause of AS is still very much unknown.Children with Asperger syndrome start to show signs as early as one to two years old; however a diagnosis is rarely given until later, usually around the ages of th...

    Read More

  • Progeria Essay

    1354 Words  | 3 Pages

    Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

    Read More

  • Progeria Syndrome Essay

    1759 Words  | 4 Pages

    It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.

    Read More

  • Progeria Essay

    2105 Words  | 5 Pages

    Progeria comes from a Greek word that means prematurely old (Ludman). After finding more cases of Progeria, researchers have discovered that there are three types of Progeria: Werner’s Syndrome, Wiedemann-Rautenstrauch Syndrome, and Hutchinson - Gilford Syndrome. Werner’s Syndrome is the adult type of Progeria, where a person starts to see symptoms in their teen years, and typically lives until their 40’s or 50’s (Gordon). Another type of Progeria is Wiedeman-Rautenstrauch Syndrome, which occurs in infants. In this case symptoms are noticed immediately after birth and the child normally only lives to their teen years (Staff). Lastly, Hutchinson-Gilford Syndrome is a type of Progeria in children where symptoms appear around the age of two, and the child’s shortened life ends in the teen years (Gordon). While there are different types of Progeria, this paper will focus specifically on Hutchinson-Gilford Syndrome.

    Read More

  • Prevention of Periodontitis

    1066 Words  | 3 Pages

    Kaldahl WB, Kalkwarf KL, Patil KD, Molvar MP, Dyer JK (February 1996). "Long-term evaluation of periodontal therapy: II. Incidence of sites breaking down". J. Periodontol. 67 (2): 103–8. doi:10.1902/jop.1996.67.2.103. PMID 8667129

    Read More

  • Turner syndrome

    1109 Words  | 3 Pages

    There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.

    Read More

  • Genetic Testing and Newborn Screening

    871 Words  | 2 Pages

    The signs and symptoms of PKU always very from mild to severe most of the time the severe case is found in infants who the infant appears perfectly normal until four to eight months or more down the road. With treatment being ignored the patient would show signs and symptoms of seizures, delayed development, behavioral problems, and psychiatric disorders these are the most sign and symptoms that are seen. Patients that go untreated will develop a musty or mouse like odor which is noted as a side effect of phenylalanine. Children with PKU show lighter skin and hair than those children who are not affected with PKU. A mutation found in the PAH gene that leads to formation of a nonfunctional ph...

    Read More

More about Progeria

Open Document