Case Study Hutchinson Gilford Progeria Syndrome

Improved Essays
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of expedited senescent in children.Approximately 90% of HGPS patients have an identical mutation in paternal allele of the LMNA gene – a supersession of cytosine to thymine at nucleotide. Albeit ostensibly a silent mutation (that is, no transmutation in the amino acid, G608G), it causes aberrant mRNA splicing, which leads to the engenderment of a truncated and partially processed pre-lamin A protein called “progerin”. Accumulation of progerin is thought to underlie the pathophysiology of HGPS. Individuals with HGPS appear to show senescent-cognate phenotypes at a much more expeditious rate than mundane, consequently leaving adolescent

Related Documents

  • Great Essays

    Children who have Progeria age at up to ten times the speed of people without it. By the time a baby who has Progeria is about a year and a half old, his or her skin starts to wrinkle and their hair starts to fall out. Cardiovascular problems, like hardening of the arteries, and degenerative diseases, like arthritis, soon follow. Most people who have Progeria die in their teens of a heart attack or a stroke; nobody is known to have lived past thirty. Hutchinson-Gilford Progeria isn't the only disease that causes accelerated aging—it's just the most heartbreaking, because it's the fastest, and it starts at birth.…

    • 1280 Words
    • 6 Pages
    Great Essays
  • Decent Essays

    Laforin Isoform X4 is associated with epilepsy. The full name for this gene is; epilepsy, progressive myoclonus type 2A, Lafora disease (Laforin). Lafora disease is the most severe teenage-onset that progresses epilepsy. This gene encodes a dual-specificity phosphatase that associates with polyribosomes, then the encoded protein may be involved in the regulation of glycogen metabolism. The mutations in this gene are associated with myoclonic epilepsy lafora.…

    • 185 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Laforin would localize and dephosphorylate substrate X through its phosphatase activity, promoting glycogenesis or the inhibition of aberrant glycogen accumulation. However, this next step would not be able to proceed without first the polyubiquitination and degradation of laforin. Thus, patients with a mutation in the EPM2B gene would develop Lafora disease because proper glycogen metabolism cannot proceed without first the degradation of laforin. Patients with a mutation in the EPM2A gene would develop Lafora disease because of their inability to dephosphorylate substrate X which is needed for proper glycogen metabolism. Both models are plausible in that they take into account the functions and interaction of laforin and malin; however, more studies will need to be done to fully explore the models in detail and…

    • 765 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Alpha 1 Research Paper

    • 639 Words
    • 3 Pages

    Alpha 1-Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is caused by mutations in the serpina1 gene on chromosome 14. The serpina1 gene codes for the Alpha-1 antitrypsin (AAT) enzyme which is a protein that protects the lungs, and is made in the liver. This deficiency occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin. Without the protection of this protein, the lungs are more sepetable to be attacked by neutrophil elastase. Neutrophil elastase is an enzyme that is made by white blood cells and it fights infections.…

    • 639 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Limb girdle muscular dystrophies (LGMD) is a general term used to describe a diverse cluster of neuromuscular disorders and they are usually being inherited. They are caused by mutations of certain genes which results in respective defective proteins being generated. These defective proteins are usually involved in the direct or indirect stabilizing of the membrane of the muscle. This disorder involves symptoms like primary or secondary weakening of limb and axial muscles, muscle wasting and joint contractures (a loss of a variety of motion in a joint due to numerous alterations in connective tissue and muscle during immobilizing period) Though they are inherited, most of them becomes apparent during adulthood. There are two general types of LGMD namely, LGMD1 and LGMD2.…

    • 695 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    Have you ever seen a baby that couldn’t breathe? Blue baby syndrome is not rare it is actually very common. This is the story about how one man changed the lives for many young blue babies. Vivien Thomas was an African American kid who had a dream of going to college and becoming a doctor. Vivien worked very hard for money to go to college.…

    • 554 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    The protein that was concluded was laforin isoform x4. The disease that is associated with this protein is myoclonic epilepsy of lafore (Genes and mapped n.d.). Lafora myoclonus epilepsy is a brain disorder which there is a reoccurrence of seizures (epilepsy) (Lafora progressive n.d.).This is used to explain the symptoms which include sudden episodes of involuntary twitching and muscle jerking that can affect only parts of the body or the body as a whole. This can occur while one’s body is resting and can be worsened by movement, enthusiasm, or by a flashing light (photos). In the later state of this disease, this can happen all of the time and affect the entire body without control (Lafora progressive n.d.).…

    • 393 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Ting, a twelve-year-old Chinese immigrant female, is medically diagnosed with Proteus syndrome. She has soft tissue masses in her chest and neck, a malformed mastoid bone, a brain tumor, a nonmalignant abdominal tumor, a neurogenic bladder, and musculoskeletal deformities. Additionally, her face, head, and digits are asymmetrical, her legs are of unequal length, and she has a gastrostomy feeding tube. At age 2 years she developed a brain infection, resulting in developmental delays and seizures. At age 10 years, she lost the ability to walk or bear weight on her legs, from spinal cord compression.…

    • 725 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    The one letter abbreviations for my chosen DNA was MRFRFGVVVPPAVA which it’s protein name is Laforin Isform. The protein Laforin Isform is connected to the disease Lafora disease (LD). This is a autosomal resessive, progressive myclonus epilepsy. This Progressive myclonus epilepsy has different amount of diseases which end up causing muscle contractions and seizures. This disease manifest during adolescence with tonic-clonic seizures, myclones,absence, visual hallucinations and drop attacks which is falling with weakness of the legs or knees.…

    • 304 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    It is an autosomal recessive disorder, meaning that an individual carrying a mutation in a single gene does not show any symptoms. When two individuals carrying the mutated LMNA gene for Progeria have a child, that child has a 1 in 4 chance of inheriting two recessive alleles and having the disorder. The LMNA…

    • 758 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Tay - Sachs disease is a fatal and genetic disorder. The disease “leads to gradual deterioration of the central nervous system. ” A child inherits the genetic abnormality if both parents are carriers of the TS gene. The gene mutation that is inherited with TSD is Hex- A. Since there is a lack of enzyme Hex -A a substance called GM2 begins to accumulate.…

    • 578 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Hutchinson-Gilford progeria syndrome (HGPS), also referred to as Progeria, was first discovered in 1886 by Jonathan Hutchinson. Later in 1194, it was named by Hastings Gilford (“About Progeria”). The name of the syndrome comes from the word geras, which is a Greek word that translates into “prematurely old” (Gosia, Mehual M, et al. 27). Segmental progeroid syndromes are syndromes in which the individuals who are affected show characteristics of premature, accelerated aging (Ramirez, C L, et al. 155). Other progeroid syndromes like Hutchinson-Gilford progeria syndrome that manifest themselves at different ages include Cockayne syndrome, Emery-Dreifuss syndrome, Werner Syndrome, Seckel Syndrome, Rothmund-Thompson syndrome, and Wiedemann-Rautenstrauch…

    • 816 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    A hero is like the sun on a rainy day. They might not be seen, but when they are seen people’s day get brighter and a rainbow may form. Most heroes have at least one thing in common, they want to help and better other people’s life or the way they view life. Heroes are respectful and impact others, but they are never arrogant.…

    • 608 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    O vergrowth syndromes Longitudinal growth results from multifactorial and complex processes that take place in the broader context of different genetic traits and environmental influences (Neylon, 2012). Overgrowth syndromes comprise a heterogeneous group of disorders that lead to excessive tissue proliferation, which is characterized by a phenotype of excessive somatic and visceral growth. A myriad of syndromes are characterized by substantial localized or asymmetric tissue overgrowth, represented by Beckwith-Wiedemann syndrome, Sotos syndrome, Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, Weaver syndrome, Nevo syndrome, Simpson-Golabi-Behmel syndrome, Bannayan-Riley-Ruvalcaba syndrome, Perlman syndrome, Pallister-Killian…

    • 607 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    When the body becomes exposed to chronic exposure to alcohol the body will adapt to changes thus causing different responses to it. A person that drinks alcohol all the time will build up a tolerance to alcohol and will not get the effect as a person that drinks once and while or rarely drinks. The brain will start to develop a pathological craving for alcohol, longer the chronic drinker uses alcohol the stronger the desires become to fulfill them. If the body does not get the desired fix of alcohol once it becomes addicted to it, individuals will develop side effect from lack of alcohol. Some of these side effects are anxiety, elevated heart beat, overwhelming feeling of restlessness and sweating (NEUROSCIENCE: PATHWAYS TO ALCOHOL DEPENDENCE,…

    • 1151 Words
    • 5 Pages
    Improved Essays