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Progeria

What is Progeria?

Progeria, or Hutchinson-Gilford Progeria Syndrome, is a rare, fatal, “premature aging” disease that afflicts children, who die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years).

 

Progeria, or Hutchinson-Gilford Progeria Syndrome, is a rare, fatal, “premature aging” disease that afflicts children, who die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years).
Acknowledgement of Progeria has not been added yet.
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Synonyms for Progeria has not been added yet.
The gene responsible for HGPS is called LMNA (pronounced “lamin-a”). Within this gene there is a change in one piece of DNA that is responsible for Progeria. This type of gene change is called a point mutation. The LMNA gene makes a protein called Lamin A, which is an important protein for most cells of our bodies. Lamin A is found in the cell nucleus (the part of each cell that contains the DNA), and helps maintain the shape and function of the cell. The point mutation compromises that cell integrity, causing Progeria. With its genetic alteration, the LMNA gene produces an abnormal lamin A protein called progerin. In children with Progeria, progerin is produced by many cells in the body, and therefore affects many of the body’s systems such as the blood vessels, skin and bones. As the children age, progerin builds up in the cells and causes progressive disease. We also now know that, although children with Progeria make progerin, the rest of us make progerin too, in much lower quantities, and the amount of progerin in the rest of us increases with age. Therefore, by working to help children with Progeria, we may have discovered a brand new protein that affects heart disease and aging in all of us
Although most are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, skin changes, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. Remarkably, the intellect of children with Progeria is unaffected, and despite the unusual physical changes in their young bodies, these extraordinary children are intelligent, courageous, and full of life. The children have a remarkably similar appearance, despite differing ethnic backgrounds.
The Progeria Research Foundation (PRF) provides a genetic test for Progeria through The PRF Diagnostic Testing Program. Previously we could only diagnose HGPS using clinical information such as an overall look at the outer, physical appearance and X-rays. Now we have a genetic test that can more definitively identify HGPS. The first step is for PRF's medical director to look at the child’s clinical history. Then, if HGPS is a possible diagnosis, a blood test is performed.
Diagnostic tests of Progeria has not been added yet
The discovery of this new protein called progerin has allowed us to understand much more about how Progeria is caused, and led to first-ever drug treatment trials for Progeria using farnesyltransferase inhibitor (FTI), pravastatin and zoledronic acid. AS of Marhc 2010, results of the FTI-only trila are pending, and the trial with all 3 drugs is underway. There are also formal healthcare recommendations on Cardiac Care, Nutrition, and Occupational Therapy/Physical Therapy through The Progeria Research Foundation.
Currently, Progeria is uniformly fatal.
Tips or Suggestions of Progeria has not been added yet.
References of Progeria has not been added yet.
Find the Other 150 Created by Eric
Last updated 3 Mar 2010, 03:45 PM

Posted by agordon
3 Mar 2010, 03:44 PM

Hi eric, Thanks for spreading the word on our Find the Other 150 Campaign. You'll be happy to know that it's working! We've indentified 5 more kids in just 3 months - unprecedented! http://www.progeriaresearch.org/prfs-global-campaign-to-find-all-children-with-progeria-its-working.html

Posted by Eric
29 Jan 2010, 03:32 PM

Fifty-four children around the world have been diagnosed with the extremely rare "rapid aging" disease, progeria. However, experts believe there are approximately 150 additional children with this disease. A global campaign has been launched to find them. To learn more about progeria, its link to heart disease and normal aging, and the "Find the Other 150" campaign, go to www.findtheother150.org.

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Find the Other 150

Created by Eric | Last updated 3 Mar 2010, 03:45 PM


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