ProgeriaBy Eric Davis

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

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

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.

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

Diagnosis and Treatment

• First symptoms show during infancy with more developing at 18-24 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

Bibliography

• Board, A.D.A.M. Editorial. "Progeria." Progeria. 4 Aug. 2011. U.S. National Library of Medicine. 19 Nov. 2012 <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622/>.

• "Breaking News." Progeria Research Foundation. 19 Nov. 2012 <http://www.progeriaresearch.org/>.

• "Hutchinson-Gilford disease." Whonamedit -. 19 Nov. 2012 <http://www.whonamedit.com/synd.cfm/1911.html>.

• Kugler, Mary. "Progeria Syndromes." About.com Rare Diseases. 3 Oct. 2004. 19 Nov. 2012 <http://rarediseases.about.com/cs/progeriasyndromes/a/060803.htm>.

• "Progeria." Wiki RSS. 7 Dec. 2010. Ashland University. 19 Nov. 2012 <http://apps.ashland.edu/index.php/Progeria>.