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Everything you Need to Know About Progeria

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A power point I made for my Honor's Biology class while learning about genetics.
I hope you find it useful!

Published in: Health & Medicine, Technology
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Everything you Need to Know About Progeria

  1. 1. (Hutchinson-Gilford Progeria Syndrome) By Alexis Goll & Ahliyah Reed
  2. 2. Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS),is a genetic disorder caused by a gene-mutation thatresults in rapid aging in humans. It is extremely rare, andoften just “pops up” in a family. It is believed to be a non-hereditary disorder, but it is possible that this disorder hasthe potential to be hereditary.There are about 130 cases of this diseasereported ever, about 1 in 4 million babieshave been born with it worldwide. MostOf these kids don’t live past 13.
  3. 3.  The word “Progeria” means “prematurley-old” in Greek. Named after the scientists who discovered it, Dr. Jacob Hutchinson in 1886 and Dr. Hasting Gilford in 1904. Major reasearchers of Progeria: -Dr. Francis Collins, who discovered the gene. -Doctors at the National Human Genome Research Institute (NHGRI). -Dr. Hutchinson & Dr. Gilford. Dr. Francis Collins, who played an extremely important role in not only the discovery of the LMNA gene, but the entire Human Genome Progect.
  4. 4. Because of the obscurity of the illness, an exactreason why this happens is still unknown-of.But, the cause of Progeria occurs because of amutation in a gene called LMNA.LMNA is a gene that produces the protein Lamin-A,which gives the cells’ nucleuses’ structural support.Because of the unstable nucleuses in the bodys’ cells,Progeria occurs. Unstable, mutated forms of the LMNA gene.
  5. 5. There are some early signs of Progeriathat are visibly noticeable: Shortened period of growth, stops at around 6 months to a year. Hair loss or lack of hair Scientists can confirm if a child has Progeria from genetic testings for a mutated LMNA gene.
  6. 6.  Stunted growth, small stature Loss of all hair, including eyelashes and eyebrows Weak, fragile bones and teeth Narrowed face and pointed nose Heart conditions and failure (these usually are the cause of death) Head un-proportionally large in comparison to body Little muscle tone and stiff joints (causes motor-skill problems) Visible veins on skin, hardened skin High-pitched voice Lowered jaw, prominent eyes, and thin lips
  7. 7. Children with Progeria do not live long because of the state their bodiesare in before they hit puberty; they have the bodies of 80 year oldpeople. Victims will die usually due to heart failure/disease brought onby the disorder. The average life-span of someone with Progeria is13 years. However, deaths have ranged from 9 months to about 22 years. Diagram of Atherosclerosis, or hardening of the arteries, which is the main cause of death for people with Progeria.
  8. 8. There is no cure for Progeria, but there aresome things the families of those who have itcan do to make their lives less miserable. Regularly take asprin Small meals Weekly checkups Physical therapy and mild physical activity Removal of primary teeth Other medications for pain.
  9. 9. http://www.progeriaresearch.org http://www.mayoclinic.com http://www.health.nytimes.com http://www.ghr.nlm.nih.govhttp://www.hayleyspage.com/progeria http://www.rareglobaldiseases.com

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