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Big Book Outline-Progeria
1. Definition: is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. a. History: The name means “prematurely old”. The classic type is Hutchinson-‐Gilford Progeria Syndrome, which was named after the doctors who first described it in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford. b. Where in the body? Affects basically the entire body. Main features appear in face. c. Forms of the disease: Classical Progeria, Non classical progeria, and congenital Progeria. d. How does the disease affect the body: most children with Progeria begin to display many characteristics of Progeria within the first year of life. The signs include growth failure, aged looking skin and stiffness of joints, and loss of body fat. As children get older, suffer from osteoporosis, heart disease and stroke.
2. Causes a. What is the cause of Progeria: By a mutation in the gene called LMNA. The LMNA gene produced the lamin a protein, which is the structural scaffolding that holds the nucleus of a cell together. The abnormal lamin a protein that causes Progeria is called progerin. Progerin makes the nucleus
1. Definition: is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. a. History: The name means “prematurely old”. The classic type is Hutchinson-‐Gilford Progeria Syndrome, which was named after the doctors who first described it in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford. b. Where in the body? Affects basically the entire body. Main features appear in face. c. Forms of the disease: Classical Progeria, Non classical progeria, and congenital Progeria. d. How does the disease affect the body: most children with Progeria begin to display many characteristics of Progeria within the first year of life. The signs include growth failure, aged looking skin and stiffness of joints, and loss of body fat. As children get older, suffer from osteoporosis, heart disease and stroke.
2. Causes a. What is the cause of Progeria: By a mutation in the gene called LMNA. The LMNA gene produced the lamin a protein, which is the structural scaffolding that holds the nucleus of a cell together. The abnormal lamin a protein that causes Progeria is called progerin. Progerin makes the nucleus
Cited: references http://www.progeriaresearch.org/progeria_101.html http://www.genome.gov/11007255 http://emedicine.medscape.com/article/1117344-‐overview http://runkle-‐science.wikispaces.com/Hutchinson-‐Gilford+Progeria+Syndrome