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Progeria

Progeria. Mike Choi. 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. History.

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Progeria

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  1. Progeria Mike Choi

  2. 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.

  3. History • Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford.

  4. 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.

  5. Type of Mutation • Mutation in the LMNA gene on chromosome 1 • The mutated form of lamin A is commonly known as progerin.

  6. 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

  7. 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

  8. Diagnosis • aging skin, loss of hair, stiffness of joints…etc • can be examined through a genetic test

  9. Treatment hope • No treatment known so far • Mostly focuses on reducing complications like heart bypass surgery or low-dose aspirin

  10. 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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