Transcript Progeria (Premature aging) By Garcelle Herke

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.
 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...
 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?
 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?
 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?
 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?
 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?
 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?
 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?
 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
 http://en.wikipedia.org/wiki/Progeria
 http://www.progeriaresearch.org/