Progeria premature aging
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Progeria (Premature aging). By Garcelle Herke Period 4. How does a person inherit it?. It is not usually inherited it’s rare,but there is a unique form of the condition identified in one family in the world that is inherited form parents who carry the protein genetically.

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Progeria (Premature aging)

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Progeria premature aging

Progeria(Premature aging)

By

Garcelle Herke

Period 4


How does a person inherit it

How does a person inherit it?

  • It is not usually inherited it’s rare,but there is a unique form of the condition identified in one family in the world that is inherited form parents who carry the protein genetically.

  • It’s a genetic condition, but occurs as a new mutation.

  • In the Hutchinson-Gilford Progeria Syndrome type it is a“sporadic autosomal dominant” mutation.


Continuing information

Continuing information...

  • It can happen to any family on accident, it’s a random mutation.

  • It is a mutation in LMNA gene.


How prevalent is the disease in the population

How prevalent is the disease in the population?

  • Only 1 in 4-8 million newborns have Progeria.

  • It can happen to both sexes and to all races.

  • Progeria has been found all over the world including Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia.


What are the chances of a person with the disease passing the disease to their offspring

What are the chances of a person with the disease passing the disease to their offspring?

  • It’s extremely rare first of all to be passed down and by the time most reach 13 they already are dying, so they can’t have kids in that age.

  • Even though they are a couple Progeria cases where some of the people make it past 13 it would still be difficult in their case to even have children.


How is the disease diagnosed

How is the disease diagnosed?

  • The Progeria research foundation has created a diagnostics testing program.

  • It helps look at the specific genetic change in the Progeria gene that leads to HGPS(Hutchinson-Gilford Progeria Syndrome).

  • After an clinical evaluation, the child’s blood is tested for the Progeria gene.


What are the physical symptoms of the disease

What are the physical symptoms of the disease?

  • Although they are born looking healthy, they began to age around 18-24 months.

  • Progeria signs include the following:growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke.

  • Surprisingly the children have similar appearances even though they have different ethnic backgrounds.


What is the life expectancy of someone with the disease

What is the life expectancy of someone with the disease?

  • The children who are effected by this die around 13 years old.

  • Although there are some cases where few had made it past 13 years old.


How can the disease be treated

How can the disease be treated?

  • There are no treatments right now, but to help with complications like with the heart there are bypass surgery or low

  • Growth hormone treatment has been attempted as a well.

  • Also the phase II clinical trial using farnesyltransferase inhibitors Lonafarnib began in May 2007.


What are some new treatments or research that is going on for the disease

What are some new treatments or research that is going on for the disease?

  • There is the Progeria Research Foundation that is funding medical research for developing new treatments and a cure for Progeria

  • The PRF cell bank were essential to the experiments of discovering the Progeria gene and may also by helpful to finding treatments and a cure for Progeria.


Bibliography

Bibliography

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

  • http://www.progeriaresearch.org/


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