Progeria (Hutchinson-Gilford syndrome)

There are less than 50 people living in the world who have Progeria, also known as Hutchinson-Gilford syndrome. Progeria, derived from Greek, means “prematurely old”, and the syndrome was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford.  Progeria is an extremely rare genetic condition, with an incidence of about 1 in 6 million births, which is not usually inherited but rather occurs as a new mutation. This is a point mutation in position 1824 replacing Cytosine with Thymine creating an unusable type of protein called Lamin A (one of the building blocks of the nuclear envelope). There is one unique form of the condition identified in only one family in the world that is inherited from parents who carry the protein genetically. In this case, five children in the family had the condition. In Progeria patients, the cell nucleus has dramatically aberrant morphology, rather than the uniform shape typically found in healthy individuals. As a result, symptoms manifest as aspects of aging at an early age. Children with Progeria have a remarkably similar appearance, despite differing ethnic background, and begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs/symptoms include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, micrognathia, and macrocephaly. There is presently no treatment or cure for Progeria, but 27 people travel to Children’s Hospital Boston from 16 countries to participate in a clinical trial [Farnesyltransferase Inhibitors (FTIs)] which ends this October, the results of which should be released by early 2010. Few people with Progeria exceed 13 years of age; at least 90% of patients die from complications of atherosclerosis, such as heart attacks or strokes.

Ashley Hegi

Lindsay Ratcliffe
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Photos by Kimberly Mitchell Courtesy of Detroit Free Press

http://www.progeriaresearch.org/

Donate to the Clinical Trial: http://www.progeriaresearch.org/ways_to_donate.html

In local news:

Golf Scramble to Benefit Progeria Research – (Evansville, IN) – http://www.oakmeadowgolfclub.com
The fifth annual Sarah Kennedy Golf for Progeria fundraiser is April 24 at Oak Meadows Country Club. Proceeds from the golf scramble will benefit the Progeria Research Foundation. Registration for the event begins at 10 a.m., followed by an 11 a.m. lunch and noon shotgun start time. The cost to participate is $300 for a foursome, $80 for individual players or $125 to sponsor a hole. Those interested in participating may call Chris Kempf at 812-459-9647 or Randy Lientz at 812-480-2220.

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~ by marbleroad on April 20, 2009.

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