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  • Hutchinson-Gilford Progeria Syndrome: by Katie Zavacki

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    Shweta Mishra
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    Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder that causes accelerated aging in children. It is typically diagnosed around age 2. Physical effects include hair loss, stunted growth, wrinkled skin, heart disease, and stroke. Children with Progeria also have a shrunken jaw, prominent veins, and arthritis. The average life expectancy is 14 years. The disorder is caused by a mutation in the LMNA gene that produces progerin, an abnormal protein that damages the nucleus of cells.

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    Progeria

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    Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder that causes accelerated aging in children. It is typically diagnosed around age 2. Physical effects include hair loss, stunted growth, wrinkled skin, heart disease, and stroke. Children with Progeria also have a shrunken jaw, prominent veins, and arthritis. The average life expectancy is 14 years. The disorder is caused by a mutation in the LMNA gene that produces progerin, an abnormal protein that damages the nucleus of cells.

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    24 views11 pages

    Hutchinson-Gilford Progeria Syndrome: by Katie Zavacki

    Uploaded by

    Shweta Mishra
    Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder that causes accelerated aging in children. It is typically diagnosed around age 2. Physical effects include hair loss, stunted growth, wrinkled skin, heart disease, and stroke. Children with Progeria also have a shrunken jaw, prominent veins, and arthritis. The average life expectancy is 14 years. The disorder is caused by a mutation in the LMNA gene that produces progerin, an abnormal protein that damages the nucleus of cells.

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    of 11

    HUTCHINSON-GILFORD

    PROGERIA SYNDROME
    BY KATIE ZAVACKI
    WHAT IS PROGERIA?

    • Rare Genetic Disorder in Children


    • Accelerates the Aging Process
    • Typically Diagnosed When Child is 2 yrs old
    PHYSICAL EFFECTS OF PROGERIA

    • Hair loss • Arthritis


    • Inability to Gain Weight • Bone Loss
    • Stunted Growth • Atherosclerosis (Heart Disease)
    • Shrunken Jaw • Stroke
    • Wrinkled Skin
    • Prominent Veins *Does not affect levels of intelligence

    Average Age of Death: 14 yrs.


    OVERVIEW OF THE CELL
    CHROMOSOMES IN THE NUCLEUS
    GENE TO PROTEIN

    Lamin A

    Unaffected
    LMNA

    Progerin

    Chromosome 1
    PROGERIN ATTACKS NUCLEUS
    NUCLEUS COMPARISON

    Average Child Child with Progeria


    TREATMENT
    REFERENCES

    https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome
    http://www.progeriaresearch.org/about_progeria/
    http://insidetheclinic.com/progeria-facts-pictures-causes-symptoms-treatment/
    http://www.intechopen.com/books/genetic-disorders/hutchinson-gilford-progeria-syndrome
    http://learningon.theloop.school.nz/moodle/mod/book/tool/print/index.php?id=14895&chapterid=800
    https://infodiseases.com/7-rarest-diseases-in-the-world-you-should-know.html
    http://prizedwriting.ucdavis.edu/past/2007-2008/a-race-against-time-an-overview-of-progeria-and-its-clinical-symptoms

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