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Malika Laurence
History of Progeria
First described by Jonathan Hutchinson in 1886: Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy... from the age of six.
Later (independently) described by Hastings Gilford in 1896: A condition of mixed premature and immature development. Progeria comes from the greek words pro and geras, meaning before and old age, respectively.
Background
Progeria is characterized as premature aging.
Individuals usually die between 8-21 years old. Average age of death is 13. It is extremely rare: 1/8 million births Nearly all patients die of heart conditions.
Symptoms in Infnacy
Symptoms emerge in the first few months of life
Failure to thrive Distinctive physical appearance: small face, shallow jaw, pinched nose, and lack of hair.
Cause of Progeria
Progeria is caused by a random point mutation (cytosine to thymine) on the gene LMNA on Chromosome 1.
LMNA codes for Prelamin A, a protein that provides nuclear support. When the mutation occurs, the nucleus is distorted. The mutation also causes production of progerin, a protein that damages cell function.
Interestingly, Progerin is found in the general population as age increases.
Normal nucleus
Progeria nucleus
Cause of Progeria
Prelamin A has a farnesyl group attached to it, allowing it to temporarily adhere to the cell nucleus. When the farnesyl is cleaved off by a protease, the Prelamin becomes Lamin A and joins the nuclear lamina (providing support for the cell). In Progeria, the farnesyl is never detached, causing permanent adhesion to the nucleus, buildup of Prelamin A, and loss of support.
Treatments
There is no cure or treatment to reduce the effects of Progeria Some treatments, such as heart bypass surgery, are used to cure the symptoms of Progeria.
A 2012 study showed that some cancer drugs (such as Lonafarnib) can be used to cure Progeria.
The study focused on farnesyltransferase inhibitors (FTIs) to restore nuclei back to their normal shape.
Identification of Progeria
Most children generally appear normal at birth. By 12 months, signs and symptoms, such as slow growth and hair loss, begin to appear. A genetic test for HutchinsonGilford progeria syndrome, also called HGPS, was recently made available.
LMNA is not expressed by the brain cells, so the gene mutation does not affect intelligence level.
I am smaller than other kids my age. I have a brother, Louis, who is nine and a sister, Ruby, who is six. Although I am the big sister in the family, they are physically bigger than me.
She frequently travels from England to Boston to receive new treatments in the United States. Airfare is not covered by Progeria Reseearch funds, but several athletes have contributed to Hayleys cause. Londons Chelsea Football club raised thousands of dollars for Hayley
Bibliography
Davis, Kyle. "A Race Against Time: An Overview of Progeria and Its Clinical Symptoms." UC Davis: Prized Writing. UC Davis University of California, n.d. Web. 21 Feb. 2013. <http://prizedwriting.ucdavis.edu/past/2007-2008/a-race-againsttime-an-overview-of-progeria-and-its-clinical-symptoms>. "First-ever Treatment for Progeria Discovered!!" Progeria Research Foundation. N.p., n.d. Web. 21 Feb. 2013. <http://www.progeriaresearch.org/first-ever-progeriatreatment.html>. Grant, Matthew. "Family Tormented by Ageing Disease." BBC News. BBC, 22 Feb. 2005. Web. 21 Feb. 2013. <http://news.bbc.co.uk/2/hi/south_asia/4286347.stm>.
Bibliography cont.
"Hutchinson-Gilford Progeria Syndrome." Genetics Home Reference. N.p., July 2007. Web. 17 Feb. 2013. <http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeriasyndrome>.
Nordqvist, Christian. "What Is Progeria?" Medical News Today. MediLexicon International, 13 May 2009. Web. 17 Feb. 2013. <http://www.medicalnewstoday.com/articles/146746.php>. "The PRF Diagnostic Testing Program." Progeria Research Foundation. N.p., n.d. Web. 18 Feb. 2013. <http://www.progeriaresearch.org/diagnostic_testing.html>. "Progeria 101/FAQ." Progeria Research Foundation. N.p., n.d. Web. 21 Feb. 2013. <http://www.progeriaresearch.org/progeria_101.html>.
Bibliography cont.
Stovall, Ami, Amanda Dean, and Helen Chen. "Cellular Mechanisms of Progeria." The Progeria Project Foundation. N.p., Apr.-May 2001. Web. 18 Feb. 2013. <http://www.progeriaproject.com/Progeria/Richland6.htm>. United States. National Library of Medicine. Center for Biotechnology Information. National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 19 Feb. 2013. <http://www.ncbi.nlm.nih.gov/gene/4000>. United States. National Library of Medicine. PubMed. Progeria. U.S. National Library of Medicine, 18 Jan. 2011. Web. 21 Feb. 2013. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002622/>.