Progeria

Kelly Vanderhoef
 What is Progeria?

 Progeria is also known as Hutchinson-

Gilford Progeria Syndrome (HGPS)

 It is a rare and very fatal genetic condition

 Premature aging
 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
 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
 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
 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
 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
 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.
 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

 www.sciencemag.org
 www.progeriaresearch.org
 www.hgps.net
 http://www.uvm.edu/~vgn/bioinf-
outreach/2_entrez/2ENTREZ_Index.htm