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Progeria

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.

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Progeria

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  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

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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>.

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