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My prezi on the genetic disorder Hutchinson-Gilford Syndrome, or Progeria.

Vaclav Cafourek

on 11 December 2010

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Transcript of Progeria

Progeria Vaclav Cafourek Goodwyne-6th Hutchinson-Gilford
Syndrome Also known as: HGPS Progeria So what is Progeria? Progeria is a
very rare
genetic disorder.
It is fatal, and
characterized by
rapid premature
aging. What causes Progeria? Progeria starts with a
spontaneous mutation
in codon 608 from exon ll
of the LMNA gene. This gene codes for
the protein Lamin A. When the gene is mutated, defective Lamin A proteins
are produced. This results in an abnormal
nucleus, which scientists
currently believe is the
main cause of Progeria. Healthy Nucleus Deformed Nucleus Is Progeria Hereditary? No. Thus far, scientists do not believe that Progeria is hereditary. Insead, it is thought to be a
spontaneous mutation caused entirely by chance. Symptoms of Progeria Narrow,wrinkled, and shrunken face Baldness Absence of eyebrows and eyelashes Short Stature Macrocephaly (Abnormally large head as relative to face size) Microganthia (Abnormally small jaw) Thin, dry, and scaly skin Fontanelle (Soft spot between cranial plates) Stiffness and a limited range of motion Delayed formation or complete absence of teeth Facts and Statistics There is no known cure for Progeria. There are only 64 known current cases of Progeria in the world. The chance of a child being born with Progeria is estimated to be 1 out of 4 to 8 million. The average life expectancy for a
person with Progeria is 13 years. Symptoms of Progeria usually
do not appear until the child is
around one year old. Children with Progeria can age at a
rate eight to ten times higher than
the normal growth rate for children. Children with Progeria usually die from
conditions like strokes, heart attacks,
cardiovascular diseases, and atherosclerosis. Scientists believe that Progeria may be vital
to learning more about some important
aspects of the normal human aging process. Since 1886, a litttle more than one hundred cases of Progeria have been reported worldwide. Treatments and Cures Although there is no cure for Progeria, there are several things that can be done to ease symptoms and slow the steady progression of cardiovascular disease. These include... A low, daily dose of aspirin. Physical and Occupational Therapy. High-calorie dietary supplements. Farnesyltransferase Inhibitors (FTIs) are drugs that are used to treat cancer.
They have shown promise in laboratory studies on treatments for Progeria.
However, no human treatment for Progeria with FTIs has been developed thus far. Life Expectancy The average life expectancy for children with Progeria is 13. Children with Progeria usually have an above average intelligence. Progeria can affect both sexes and all races. Progeria has a life
expectancy range of
8-22 years. Progeria Support Groups Because Progeria is such a rare
disease and has cases worldwide,
support groups for Progeria are
usually online. There is a support group for Progeria on MDJunction.com and an online community for families affected by progeria on progeriaresearch.org. Families afflicted by Progeria are also recommended to visit a counselor upon diagnosis for support and understanding. Children affected with Progeria must slowly come to terms with the reality of a shortened lifespan. Progeria Karyotype Due to Progeria being caused by a point mutation, a patient with Progeria will have a normal looking karyotype. Pictures of Progeria This is the end of my presentation on Progeria. I hope you have learned something from it and will share this with others. Some of the websites I used for my presentation:
Full transcript