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Progeria
Kelly Vanderhoef
What is Progeria?
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Progeria is also known as HutchinsonGilford Progeria Syndrome (HGPS)
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It is a rare and very fatal genetic condition
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Premature aging
Signs and Symptoms
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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
More signs and Symptoms
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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
How long?
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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
How does this happen?
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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
More on what Causes Progeria
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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
Where is the Mutation?
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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.
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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
References
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www.sciencemag.org
www.progeriaresearch.org
www.hgps.net
http://www.uvm.edu/~vgn/bioinfoutreach/2_entrez/2ENTREZ_Index.htm