Progeria

How Progeria Affects the Body:

Progeria Research Project

• Progeria is caused by a mutation within a gene called LMNA.
• This gene is supposed to produce Lamin A, a protein that keeps the nucleus strong in the cells, but the mutated version of it is called progerin.
• Without the strength of the nucleus, cells are weakened, and the body ages rapidly.
• In a child with Progeria, all body cells are affected.

Genetic Component/Progeria Explained:

vimeo.com/75526698

By: Meghan Veenstra

Mrs. Boughan

6/11/14

The Rare Disease: Progeria

• Progeria, known as Hutchinson-Gilford Progeria Syndrome, is a rare genetic disease that causes pre-mature aging in children. There are 103 known cases of children with it.

Cures/Treatments

• Children live to an average of thirteen years, and the oldest that anyone with the disease has lived to is 26 years old.

Symptoms

• Children with this disease are born looking healthy, but symptoms typically show when children 18-24 months old.

• growth failure
• aged-looking skin
• loss of body hair
• small jaw
• macrocephaly (larger head for the size of the face)
• scaly, thin, or dry skin
• loss of body fat
• hip dislocation
• stiffness of joints
• heart disease/stroke

• This disease is constantly being studied, but there is no cure yet; all of these children die of heart attacks/strokes.
• All treatments at this time are experimental.
• On September 24th, 2012, results of the first-ever clinical drug trial for children with this disease were released.
• Children had been given farnesyltransferase inhibitors (FTI's), which were originally created as experimental cancer drugs, every four months for two and a half years.
• Trial showed improvements in weight gain, bone structure and vascular stiffness.

• It's not passed down through families; it is the result of a mutation and is a dominant disease.

Sources

More Recent Advances:

• As of May 6, 2014, the FTI's, with two additional drugs pravastatin and zoledronate, have been proven to increase the mean survival rate of Progeria children by 1.6 years.

• http://progeria2010researchproject.weebly.com/uploads/5/8/7/9/5879933/466790.jpg?398
• http://images.businessweek.com/ss/07/02/0216_innovations/image/genetics.jpg
• http://2.bp.blogspot.com/_7KKR3ms1nWc/TKdpVASUM5I/AAAAAAAAABI/5Y4B9EkCpzQ/s1600/Progeria.jpg
• http://imgick.nj.com/home/njo-media/pgmain/img/star-ledger/photo/2010/10/-3750429e192ad493.JPG
• http://www.healthline.com/health/progeria-syndrome#Overview
• http://www.genome.gov/11007255
• http://www.progeriaresearch.org/
• http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622/
• http://progeriaresearch.org/assets/files/pdf/newsletters/Sept%202012%20Special%20nwsltr.pdf
• http://www.findtheother150.org/
• http://progeriaresearch.org/drug-increases-lifespan.html

Diagnosis

The Progeria Research Foundation:

• As of 2003, there is now a test to have a definite diagnosis for Progeria.
• Doctors may test for the disease after noticing a failure to grow or rapid hair loss.
• Test consists of genetic sequencing: examining the gene from a skin cell in order to see if it has the mutated letter.

• PRF has created a campaign called "Find the Other 150". Experts believe that there are 100-150 children across the world that live with Progeria and haven't been diagnosed/identified.
• Once others are found, they too can benefit from PRF programs and treatments.

Populations Affected:

• 1 in 4-8 million newborns are affected by Progeria.
• Progeria equally affects children across the world; no specific area is more/less prone to it
• Humans are the only species that can have Progeria.