1 / 11

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.

dooley
Télécharger la présentation

Progeria

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related