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Progeria

Published on Nov 19, 2015

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PRESENTATION OUTLINE

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PROGERIA

AMANDA FARLAND.
Photo by Dominic Alves
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MEANING OF PROGERIA.

  • Pro-before
  • Geria-old age
  • Comes from Greek language
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PHENOTYPES.

  • Baldness
  • Swollen veins
  • No eyebrows or eyelashes
  • Beakshaped nose
  • Shrunken chin
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PHENOTYPES CONT.

  • Premature cardiac disease
  • Narrow chest
  • Swollen and stiff joints
  • Age spots
  • Narrow arteries
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PROTEIN MUTATED

PROGERIN.
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FUNCTION OF WILDTYPE PROTEIN.

  • Holds the nucleus of the cell together.
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Progeria disorder affected

The way progerin is effected by progeria is by progerin holding the nucleus together but the mutation doesn't allow it to hold its shape.

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GENE THAT CODES FOR PROGERIN

  • Called LMNA
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LOCATED

1Q22.
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POINT MUTATION

  • Frame shift
  • Deletion
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Inherited

Dominate autosomal

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PUNNETT SQUARE

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PEDIGREE

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What life is like with progeria

The easiest way to explain it is it’s like my body is 100 years old when I am actually thirteen but I don’t like it when people call me old because I don’t feel like I am 100 years old.


http://hayleyokines.com

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Board, A.D.A.M. Editorial. Progeria. U.S. National Library of Medicine, 08 Apr. 2011. Web. 12 Jan. 2014.
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622/

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http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622/
"Learning About Progeria." Learning About Progeria. N.p., n.d. Web. 12 Jan. 2014

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http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622/
Board, A.D.A.M. Editorial. Progeria. U.S. National Library of Medicine, 08 Apr. 2011. Web. 12 Jan. 2014.

Amanda Farland