Progeria (Premature aging)

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Progeria(Premature aging)

• By
• Garcelle Herke
• Period 4

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How does a person inherit it?

• It is not usually inherited its 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.
• Its a genetic condition, but occurs as a new
  mutation.
• In the Hutchinson-Gilford Progeria Syndrome type
  it is asporadic autosomal dominant mutation.

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Continuing information...

• It can happen to any family on accident, its a
  random mutation.
• It is a mutation in LMNA gene.

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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.

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

• Its extremely rare first of all to be passed
  down and by the time most reach 13 they already
  are dying, so they cant 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.

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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 childs blood
  is tested for the Progeria gene.

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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 followinggrowth
  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.

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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.

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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.

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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.

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Bibliography

• http//en.wikipedia.org/wiki/Progeria
• http//www.progeriaresearch.org/