Transcript Progeria
Progeria Kelly Vanderhoef What is Progeria? Progeria is also known as HutchinsonGilford 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/bioinfoutreach/2_entrez/2ENTREZ_Index.htm