progeria kelly vanderhoef. what is progeria? progeria is also known as hutchinson- gilford progeria...
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ProgeriaProgeria
Kelly VanderhoefKelly Vanderhoef
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What is Progeria?What is Progeria?
Progeria is also known as Hutchinson-Progeria is also known as Hutchinson-Gilford Progeria Syndrome (HGPS)Gilford Progeria Syndrome (HGPS)
It is a rare and very fatal genetic It is a rare and very fatal genetic conditioncondition
Premature agingPremature aging
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Signs and SymptomsSigns and Symptoms Beginning around a year and a half to two years Beginning around a year and a half to two years
of age children show signs of accelerated agingof age children show signs of accelerated aging Growth FailureGrowth Failure Loss of body fatLoss of body fat Loss of hairLoss of hair Aged skinAged skin Stiff jointsStiff joints Hip dislocationHip dislocation AtherosclerosisAtherosclerosis Heart diseaseHeart disease StrokeStroke
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More signs and SymptomsMore signs and Symptoms
Small face and jawSmall face and jaw Pinched nosePinched nose Mental development is not affectedMental development is not affected No neurodegenerationNo neurodegeneration No cancer predispositionsNo cancer predispositions Age at a rate 6-8 times faster than Age at a rate 6-8 times faster than
normalnormal
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How long?How long?
Progeria usually only allows a child to Progeria usually only allows a child to live to be on average 13 yearslive to be on average 13 years
Most cases death is caused by Most cases death is caused by atherosclerosisatherosclerosis
Can die as young as 8 Can die as young as 8 Oldest lived to be 29 Oldest lived to be 29
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How does this happen?How does this happen?
Progeria is thought to be a dominant Progeria is thought to be a dominant trait and it is developed during cell trait and it is developed during cell division of a newly conceived childdivision of a newly conceived child
It also can take place in the gamete It also can take place in the gamete of one of the parentsof one of the parents
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More on what Causes More on what Causes ProgeriaProgeria
A mutation in the LMNA gene (produces A mutation in the LMNA gene (produces lamin A protein) lamin A protein)
Located on chromosome 1 (1q21.2-q21.3)Located on chromosome 1 (1q21.2-q21.3) This protein is what holds the cells nucleus This protein is what holds the cells nucleus
togethertogether When this protein is defected it makes the When this protein is defected it makes the
nucleus unstablenucleus unstable This is the process that leads to premature This is the process that leads to premature
agingaging
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Where is the Mutation?Where is the Mutation?
Out of 664 Amino acids coding for the lamin A Out of 664 Amino acids coding for the lamin A protein the mutation occurs in 50 of themprotein the mutation occurs in 50 of them
Happens in exon 11Happens in exon 11 It changes Glycine to GlycineIt changes Glycine to Glycine This is a defect in the splicingThis is a defect in the splicing There has not been enough information There has not been enough information
obtained on this so no image of the protein or obtained on this so no image of the protein or mutation of the protein are available.mutation of the protein are available.
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Prelamin is when the protein is entering Prelamin is when the protein is entering through the membranethrough the membrane
The prelamin is supposed to be cleaved The prelamin is supposed to be cleaved off and detached from the membrane to off and detached from the membrane to form the lamin A protein that needs to be form the lamin A protein that needs to be around the nucleusaround the nucleus
C Terminal globular domain
The mutation happens after this globular domain
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ReferencesReferences
www.sciencemag.orgwww.sciencemag.org www.www.progeriaprogeriaresearch.org research.org www.hgps.netwww.hgps.net http://www.uvm.edu/~vgn/bioinf-http://www.uvm.edu/~vgn/bioinf-
outreach/2_entrez/outreach/2_entrez/2ENTREZ_Index.htm2ENTREZ_Index.htm