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Progeria Mike Choi
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How does Progeria occur? 90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together.
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History Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford.
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Can Progeria be passed to future generations? It cannot be passed to future generations because it is due to a rare gene change which happens purely by chance.
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Type of Mutation Mutation in the LMNA gene on chromosome 1 The mutated form of lamin A is commonly known as progerin.
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Where does it occur? Lamin A The LMNA gene codes for two proteins – lamin A and lamin C In HGPS, the LMNA gene produces abnormal form of the lamin A protein
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phenotypic effects to the human body Growth failure Loss of body fat Loss of hair Aged-looking skin Stiffness in the joints Hip dislocation Heart disease
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Diagnosis aging skin, loss of hair, stiffness of joints…etc can be examined through a genetic test
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Treatment hope No treatment known so far Mostly focuses on reducing complications like heart bypass surgery or low-dose aspirin
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References http://www.medicalnewstoday.com/articles/146746.php http://en.wikipedia.org/wiki/Progeria http://www.nlm.nih.gov/medlineplus/ency/article/001657.htm http://www.genome.gov/11007255
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