1. Progeria
By Eric Davis

2. What Is Progeria? Autosomal dominant genetic disorder
Rarely Inherited, occurs as a new mutation
Hutchinson-Guilford Progeria Syndrome: chromosome unknown (1 in 8 million births)
Werner Syndrome: chromosome 8

4. Lamin A (LMNA) Protein
Point mutation in long q arm of 1st chromosome affects the gene for the protein Lamin A, this mutation causes Progeria
cytosine replaced by thymine at the 1824 nucleotide
Lamin A Assists in forming nuclear membrane
Unusable Lamin A is called progerin and the results are unstable cells

6. History Lesson
First studied by Jonathan Hutchinson in 1886 and later by Hastings Guilford in 1897
The name Progeria comes from Greek, means prematurely old
Less than 100 known cases is in history
Most research is just being done in recent times.

8. Symptoms
Symptoms of those affected by Progeria (specifically HGPS): Failure to thrive, scleroderma like skin condition, full body hair loss, receding jaw, pinched nose, wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, heart problems, fat and muscle deterioration.
Mental and motor development is usually unaffected

9. Diagnosis and Treatment
First symptoms show during infancy with more developing at months
Average age of death is 13, cause of death is usually heart attack or stroke
New treatments are raising life expectancy, those with Progeria may now be able to live up to 80
Treatments used to suppress symptoms are same , Lonafarnib has been proven to stabilize cell structure

11. Bibliography
Board, A.D.A.M. Editorial. "Progeria." Progeria. 4 Aug U.S. National Library of Medicine. 19 Nov <
"Breaking News." Progeria Research Foundation. 19 Nov <
"Hutchinson-Gilford disease." Whonamedit Nov <
Kugler, Mary. "Progeria Syndromes." About.com Rare Diseases. 3 Oct Nov <
"Progeria." Wiki RSS. 7 Dec Ashland University. 19 Nov <