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”• Hutchinson-Gilford Progeria Syndrome is its

technical name, but in this presentation we will be calling simply Progeria

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

• 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

• 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

• 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

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• 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

Pictures

The “Extras”

•Yes there are several organizations that help includingHayleys Hope Sunshine Foundation Progeria Research FoundationProgeria 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.

http://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