Progeria


Description:
Progeria causes accelerated ageing in children. They look normal at birth but within a few months you are able to see differences. They stop normal growth. They don’t gain weight, they’re small, lose all body hair, and their skin is hard not like a normal baby’s skin. Kids with Progeria usually die in their teens. They get arthritis, chest pain, sore muscles, have blood clocks, and die from heart attacks and stokes.


Inheritance:
Progeria is caused by a mutation in the gene. So, anyone can get Progeria. Its not passed down, mainly because no one with Progeria has made it into adult-hood. In 2003 scientist found the mutated gene, LMNA. Normally LMNA makes and encodes the protein A which becomes lamin A. kids with Progeria have a mutation of this called Progerin. Now that they found the mutated gene they are making drugs to help cure Progeria.



Symptoms:
The symptoms for Progeria are not noticeable at birth. They show sighs of very fast aging. Their facial area is not fully developed. They lose all body hair; very little body fat, have tight skin, stiff joints, high blood pressure, hip dislocations, and die from heart attacks and strokes.


Daily Life:



Diagnosis:
To diagnosis Progeria doctors look at the appearance of the patient and medical records. They test the child’s blood and look to identify the mutated gene, LMNA. They look for sign’s of Progeria like very low weight, very small body and height, no body hair, tight skins and muscles, undeveloped facial area, and overlapping teeth.




Treatment: there is no cure but doctors made some pills and activities to ease the pain. For example- Hydrotherapy, a pool that helps relax and relive pain. Nutrini- a bottle to help provide nutrients and everything they need to make them stronger since they don’t have much of and appetite. Pro-cal –new generation protein and calorie food enricher.
They take vitamin E to protect vitamins A or any breakdowns of the tissue. They also take aspirin to help with the pain and Fluoride which helps with dental health. FTI is a new drug. It shapes the cells to look normal. A normal cell should be circular but people with Progeria have cells that look like blobs. It reverses nuclear structure abnormalities that identify the cells. This drug puts Progeria on pause. Many patients have taken this drug and they saw improvements. They grew in size and shape. They are growing hair and have gained weight.-



Research:
In 2003 the PRF (Progeria Research Foundation) found the mutated disease. Theirs a clinical drug trail. They are testing and making new drugs to help kids with Progeria. PRF has many programs and found raisers to help research Progeria. PRF brought scientist from all over, together to help find the cure for Progeria. Together they made the FTI drug. They have made a big improvement and are close to finding the cure.



Additional Facts:
Progeria effects one in every four million births. PRF (Progeria Research Foundation) is the biggest Progeria research program in the world. Progeria was first diagnosed in 1886. Progeria is cause by a tiny point mutation in a child’s D.N.A – a one letter typo in the billions of letters that make up the chromosomal book. The disease can not be passes on. Does not effect the mind.



Punnett Square:

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Pedigree Chart:
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Resources:

Include hyperlink to websites that you used as part of your research.



http://www.progeriaresearch.org/
http://www.hayleyspage.com/

Author/editor: Keith More
Tittle of book: Old at Age Three
Place of publication (city):Gols.washington
Publisher: Boss Publishing
Pages used: 15-33
Date of publication (copyright) 2007

Pictures:
progeria.jpg progeria1.jpg progeria3.jpg