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Progeria. By: Sean Burns And Zachary Scott. Your Basic Info. Progeria is caused by a point mutation replacing thymine with cytosine It is genetically dominant It is inherited if only one copy in the altered gene is “bad”

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progeria

Progeria

By: Sean Burns

And

Zachary Scott

your basic info
Your Basic Info
  • Progeria is caused by a point mutation replacing thymine with cytosine
  • It is genetically dominant
  • It is inherited if only one copy in the altered gene is “bad”
  • Hutchinson-Gilford Progeria Syndrome is its technical name, but in this presentation we will be calling simply Progeria
symptoms
Symptoms
  • Progeria presents with no symptoms in first year
  • After first 18 months-24 months children will show sighs of premature ageing , growth failure, and failure to gain weight.
  • As they age there arteries harden and they die of heart related causes at an average age of 12
medical
Medical
  • Because of its ability to kill at a young age the disease is very rare and can not be passed on to the next generation through breeding.
  • Also because of this ability progeria is very hard to research so we know very little about it. However scientists have discovered a way to cause the mutation in mice making research of the disease more on hand.
and even more medical
And Even More medical
  • Looking at genotypes…well its kind of hard because what research has been done shows that the disease is caused by a rare mutation at the dividing of the egg
  • Statistics show that 1 in 8million babies born will have progeria
affects
Affects
  • For the victim the quality of life is very poor. With the everyday pills and the constant weight loss, as well as the hair loss it would be un-imaginable to live through something like this.
  • The limitations a person would have include walking, physical activity, exposure to outdoors for extended periods of time, and eating
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HOPE?
  • There is no cure, but we may be getting close. Scientists are working on a treatment right now that has showed a ability to reverse the most life threatening of the problems resulting from progeria.
  • As far as a “treatment” now, we found some tips on Hayley's Progeria Page about treating the symptoms.
treatment
Treatment
  • Hydrotherapy. Every week we take Hayley to our local hospital for a 30 minute session in the Hydrotherapy pool. Hydrotherapy promotes relaxation, relieves pain, assists movement and enables exercise.
  • Nutrini.Hayley has a very small appetite and doesn't really enjoy eating. Each night before she goes to bed she has a 200ml bottle of Nutrini. This provides all of the nutrients essential for well-being and health.
  • Pro-Cal. Pro-Cal is a new generation protein and calorie food enricher that can be added to a wide variety of food and drink to enrich the energy and protein content of the normal diet with the minimum effect on taste, volume and texture
  • Vitamin E. Vitamin E is a fat-soluble vitamin that protects Vitamin A and essential fatty acids from oxidation in the body cells and prevents breakdown of body tissues.
  • Aspirin. Aspirin is now accepted as an important weapon in the prevention of heart disease.
  • Fluoride. All Progeria children have problems with thier teeth. Underdevelopment of the facial bones and the lower jaw leads to delayed eruption of the teeth
the extras
The “Extras”
  • Yes there are several organizations that help including
  • Hayleys Hope
  • Sunshine Foundation
  • Progeria Research Foundation
  • Progeria Family Circle
  • There is almost no chance to get this diease through your families genetics. First because the people die so early and second because its caused by a point mutation I early gestation.
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http://www.seattlepi.com/dayart/20040916/450progeriaXX_closeup.jpghttp://www.seattlepi.com/dayart/20040916/450progeriaXX_closeup.jpg

http://current.com/items/89421213/new_hope_for_progeria_drug_for_rare_aging_disease.htm

http://en.wikipedia.org/wiki/Progeria

WebMD.com

CDC.Org