Progeria


Description: (TNR, 12, Bold)
Progeria is a disease that causes rapid aging in the cells of the body. This accelerates aging in body parts. However it will not affect intelligence. Children affected with this dreadful disease will look normal during birth and infancy. Rapid aging does not begin until two years of age. Most children that have this disease usually die at age thirteen.



Inheritance:
Progeria is known as an autosomal dominant mutation. This means that you only need one defective gene in order to get this disease. Scientists agree that there is a mutation in the gene called LMNA. This gene produces Lamin-A proteins. The defective proteins make the nucleus of the cells unstable. As a result this causes premature aging. In very rare instances, Progeria is passed down within a family; this dreadful disease can affect both sexes.


Symptoms:
  • Dwarfism
  • Small face and jaw in relation to head
  • Delayed tooth formation
  • Wrinkled and aged-looking skin
  • Stiffness of joints
  • Hip dislocation
  • Baldness
  • Pinched nose
  • Atherosclerosis and cardiovascular problems
  • Children with Progeria look similar even though they are from different races.


Daily Life:





Diagnosis:
There is no specific laboratory test. The diagnosis is usually based upon physical appearance. Diagnosis is made in the first or second year of life when skin changes and there is no weight gain. The Progeria Research Foundation has created the diagnostics testing program where the blood will be tested for the defective gene that causes Progeria. A blood sample will be taken for testing. This will lead to an earlier and a more accurate diagnosis.


Treatment:
There is a clinical drug trial available for a potential treatment or even a cure for Progeria. Children that have taken this drug have shown significant improvement by increasing their life span drastically. This drug, farnesyltransferase inhibitors (FTI’s), stabilizes the nucleus of the cells. This drug was originally developed for cancer treatment. Proper nutrition, physical and occupational therapy, preventative cardiac and other care are essential.


Research:
There is no prevention for Progeria. Scientists have been testing an insulin-like growth factor 1. This has extended the lifespan of mice with Progeria. They have also used the FTI drug. These drugs will slow down the aging caused by Progeria.


Additional Facts:
  • Progeria affects 1 in 4-8 million children.
  • This rare disease is also called Hutchinson-Gilford Progeria Syndrome.
  • It is Greek for “premature aging”.
  • It is even rarer to pass on Progeria to your offspring.
  • There are many types of Progeria.
  • Finding a cure for this dreadful disease will help millions of adults suffering from heart disease and strokes.
  • Progeria was first described by English doctors:
    • Dr. Jonathon Hutchinson (1886)
    • Dr. Hasting Gilford (1897)


Pedigree Chart:
Param_P._pedigree_chart.png.PNG

Pictures:

external image 4131976.jpgexternal image progeria-2.jpg external image Progeria.png



Resources:

http://manbir-online.com/diseases/progeria.htm
http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome
http://www.progeriaresearch.org/