Progeria By Eric Davis.

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Presentation transcript:

Progeria By 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>.