Progeria

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Progeria

• Kelly Vanderhoef

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What is Progeria?

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

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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

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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

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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

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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

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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

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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.

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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
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References

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