1. Progeria
Kelly Vanderhoef

2. What is Progeria?
Progeria is also known as Hutchinson-Gilford Progeria Syndrome (HGPS)
It is a rare and very fatal genetic condition
Premature aging

3. Signs and Symptoms
Beginning around a year and a half to two years of age children show signs of accelerated aging
Growth Failure
Loss of body fat
Loss of hair
Aged skin
Stiff joints
Hip dislocation
Atherosclerosis
Heart disease
Stroke

4. More signs and Symptoms
Small face and jaw
Pinched nose
Mental development is not affected
No neurodegeneration
No cancer predispositions
Age at a rate 6-8 times faster than normal

5. How long?
Progeria usually only allows a child to live to be on average 13 years
Most cases death is caused by atherosclerosis
Can die as young as 8
Oldest lived to be 29

9. How does this happen?
Progeria is thought to be a dominant trait and it is developed during cell division of a newly conceived child
It also can take place in the gamete of one of the parents

10. More on what Causes Progeria
A mutation in the LMNA gene (produces lamin A protein)
Located on chromosome 1 (1q21.2-q21.3)
This protein is what holds the cells nucleus together
When this protein is defected it makes the nucleus unstable
This is the process that leads to premature aging

11. Where is the Mutation?
Out of 664 Amino acids coding for the lamin A protein the mutation occurs in 50 of them
Happens in exon 11
It changes Glycine to Glycine
This is a defect in the splicing
There has not been enough information obtained on this so no image of the protein or mutation of the protein are available.

12. Prelamin is when the protein is entering through the membrane
The prelamin is supposed to be cleaved off and detached from the membrane to form the lamin A protein that needs to be around the nucleus
C Terminal globular domain
The mutation happens after this globular domain

14. References www.sciencemag.org www.progeriaresearch.org www.hgps.net