PROGERIA

1."a rare congenital abnormality characterized by premature and rapid aging, the affected individual appearing in childhood as an aged person and having a shortened life span." http://dictionary.reference.com/browse/progeria 

Introduction 

     Aging is a natural process of the life cycle-- birth, aging, and then death. That is how it usually goes for everybody. We age naturally, and as we become older, our bodies are growing older, and in turn, our bodies make changes to adjust to its changing self.

However, one disease threatens this natural process. That disease is Progeria.

ALL ABOUT PROGERIA:

There are two forms of Progeria, and they are the Hutchinson-Gilford Progeria Syndrome (HGPS) and the Werner Syndrome (Adult Progeria).

The Hutchinson Gilford Progeria Syndrome...

     Hutchinson Gilford Progeria Syndrome is an extremely rare disease that occurs in about one per eight million births. HGPS is a genetic disease in which the affected patient (who are affected since birth) ages around eight to ten times faster than normal children, though mental development is not affected. A child born with HGPS has transparent skin as an infant, and a small, fragile body, like that of an elderly person.

Progeria is almost always occurred with chance, rarely is that a healthy parent can carry the mutated gene that causes Progeria in their offspring. HGPS is known as an autosomal dominant disease, so theoretically, if one parent is carring an autosomal dominant gene, there is a 50% chance that the child will inherit the trait or disease. However, the parent themselves do not necessarily have to have the disease; relatives or ancestors might have had the dominant gene show up in trait.

And WHY

     Progeria is caused by mutations in the LMNA gene. LMNA is the Lamin A protein, which is a vital gene that works besides the nucleus to help keep it together; you could almost call it the glue for cells. Mutated LMNA are caused by the inability of Prelamin A genes to become Lamin A genes, and then Lamin A protein. This is caused by the replacement of cytosine(C) with thymine(T) in the LMNA gene, after the prelamin A genes have already been relocated at the nucleus to become Lamin A genes. This results in Prelamin A genes to build up in the nuclear membrane, causing a blebbing, or irregular bulge in the nucleus, and makes the nucleus unstable. This is believed to be the cause of the irregular, accelerated aging.

    In short, HGPS affects children, and most patients with the Hutchinson-Gilford Progeria Syndrome have an average life-span of 13 years, with a range of 8-21 years.

While there are no know cures for the Hutchinson-Gilford Progeria Syndrome, many attempts have been made. Most recently, scientists have declared that Farnesyltransferase inhibitors (FTIs), a drug used to treat cancer, has the ability to reverse the nuclear disabilities that are found in Progeria patients. This drug has been previously tested on mice, and have produced improved results. Hutchinson-Gilford Progeria Syndrome mostly affects children of Caucasian descent.

The Werner Syndrome

     Another form of Progeria is called the Werner Syndrome, which is also known as the 'Adult Progeria'. It is named after Otto Werner, a German medical student who first identified this disease in 1904. This form of Progeria is a recessive gene, which means that two recessive genes of this disease are needed to show the illness, and therefore two parents carrying Werner Syndrome genes have the possibility to pass it on to their children. Adult Progeria affects patients in their later teenage years, usually during the time puberty is due; the patients develop normally until puberty. No other signs are shown until patients reach their thirties, which is when many age affected disorders begin coming into light. Such diseases as cateracts, diabetes, atherosclerosis(severe hardening of the arteries), and cancer.

And WHY     

     Werner Syndrome is caused by mutations in the WRN gene, which is used to produce Werner proteins, and who are used in the maintenance and repair of DNA and also help replicate DNA. The mutation in the WRN gene produces unusable Werner proteins, and as a result, DNA replications are affected. The exact relationship of mutated Werner proteins and growth development are not clear, but it is thought that the mutated and non-workable Werner proteins are not transported to the nucleus to work with DNA, and therefore DNA reproduction is affected. Also, cells with a mutated Werner protein may divide slower or stop dividing earlier than usual, causing the Werner Syndrome. Werner Syndrome appears mostly in Japanese and Sardinian children.

     There is no cure for Werner Syndrome, but recent research shows that if vitamin C is put in a Werner Syndrome patient, it may help cure the disease. However, more research has yet to be done to determine the capability of oral vitamin C in humans.

     The most important thing, however, is to do our best to help people of all ages with the disease Progeria. Remember, they are all really just the same as you and I, and that is all that they will ever be.

http://www.scripps.edu/~jjperry/WS.jpg

The picture shown above is of a patient with Werner's Syndrome, at age 15 and 48.

 http://www.amitbhawani.com/health/wp-content/uploads/2009/12/Progeria-Disease.png 

This child has Hutchinson Gilford Progeria Syndrom, one of the less common forms of Progeria. Notice the pinched face and large head.

http://www.genome.gov/Images/press_photos/lowres/37-72.jpg

This is the cell of untreated HGPS cells (left) compared to cells treated with Farnesyltransferase inhibitors (FTIs).

http://img502.imageshack.us/img502/7586/progeria2.jpg

In all, it is most important to understand that theses children with Progeria, shown above, is no different that you or I. Please help further Progeria cure researches at the many Progeria foundations. Simply Google the term Progeria and help the many in need today.

Visit the Progeria Foundation at http://www.progeriaresearch.org/index.html

http://www.youtube.com/watch?v=trFBZprV_eU&feature=fvsr 

This video made me cry. It once more accurately portrays this harsh disease, and the importance of ending it. Saving these children should be a top priority. Check this video out. It will touch your heart, I promise.

These kids are just like us.

BIBLIOGRAPHY

Definition of Progeria- http://dictionary.reference.com/browse/progeria

Pictures (in order from first to last)-

http://amitbhawani.com/health/wp-content/uploads/2009/12/Progeria-Disease.png

http://www.genome.gov/Images/press_photos/lowres/37-72.jpg

http://img502.imageshack.us/img502/7586/progeria2.jpg

All the information that I  have posted are written by me. None of it is copied without being quoted (see definition above). I collected much of my research from Wikipedia and other government supported websites about this disease.

http://en.wikipedia.org/wiki/Progeria

http://www.progeriaresearch.org/about_progeria.html

http://www.genome.gov/11007255 (This link offers further links about Progeria!)

http://www.oppapers.com/essays/Progeria-Report/50642 

For more information, visit Google Search Engine at the weblink shown below!

http://www.google.com/search?hl=en&source=hp&q=progeria&aq=f&aqi=g10&oq=

Please help!

Visit http://www.progeriaresearch.org/index.html