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Progeria

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Progeria is a developmental disorder that is a also known as Hutchinson-Gilford Progeria Syndrome. This disease is is a fatal genetic condition characterized by an appearance of accelerated aging in children. The name originates from the Greek and is translated as "prematurely old". It was named after Dr. Jonathan Hutchinson and Dr. Hastings Gilford in the late 19th century [1]. When children with this disease are born, they appear to be healthy. After a short time they begin to show signs of rapid aging. Their joints stiffen, they lose body fat and hair, and they begin to develop heart disease. Their skin takes on the appearance of an old person. The intelligence of these children does not appear to be affected. No matter what the ethnic background, all children with progeria have a strikingly similar appearance. Progeria is caused by a mutation in the LMNA gene which makes the nucleus unstable, which leads to premature aging in the children it effects. It is not passed down genetically from generation to generation. Much research has been done to find out more about this disease. There is no known cure, however, there are treatments and medication that will slow down the progress of the disease. Most children die from this disease at a young age due to heart disease and stroke [2].

Causes

Above-normal nucleus, below-signs of progeria

The gene that causes this genetic disease is called lamin A (LMNA). This gene for progeria was discovered in April 2003 by a group of research scientists who were working together through The Progeria Research Foundation (PRF) Genetics Consortium, as well as a French group of researchers. This gene produces a protein which holds the nucleus together. The abnormal lamin A protein that causes progeria is called progerin, which makes the nucleus unstable. The instability of the cell leads to the process of premature aging and disease. As the children get older, progerin builds up in the cells causing a disease that is progressive[3]. The discovery of progerin has allowed scientists to understand more fully how these children diagnosed with progeria grow old so quickly. However, progeria does not get passed down from generation to generation like other genetic diseases. Researchers believe that the gene change is a chance occurrence; meaning that neither parent is a carrier and progeria does not get passed down from the parent to the child [4].

Symptoms

Progeria is called a syndrome because most of the children who are affected have very similar symptoms and appearance. A child with progeria is born appearing healthy, like a normal child, for the first several months of their life. However, the child will begin to display many characteristics of accelerated aging at about 18-24 months of age. Soon the growth of the child will begin to slow down and their height and weight will fall below average. The symptoms and signs of progeria are very similar to a person who is aging, but will appear at a very young age. Even though their symptoms of aging develops quickly, their intelligence level will continue to develop at the rate of a normal child. [5]


Signs and Symptoms of Progeria include:

  • Growth failure during the first year of life
  • Narrow, shrunken or wrinkled face
  • Baldness
  • Loss of eyebrows and eyelashes
  • Loss of body fat and hair
  • Short stature
  • Large head for size of face
  • Open soft spot
  • Small jaw
  • Dry, scaly, thin skin
  • Limited range of motion
  • Teeth - delayed or absent formation

These children often die of premature, progressive heart disease.They also develop high blood pressure, an enlarged heart, sharp pain in their chest near their heart (angina), and heart failure which are all symptoms that affect the health of senior citizens [6].

Occurrence

Progeria occurs very infrequently. It is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). One in every 4-8 million newborns develop progeria. As of February 2012, there are 89 children living around the world who have been diagnosed with progeria. Progeria effects both sexes and all races equally. This genetic disease has been reported all over the world in the past 15 years, and has been found in Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia [7]. Progeria does not pass down from one generation to the next due to the fact that the gene change is so rare that it would be a strange occurrence if a parent and their child had progeria. In fact, it is rarely seen in more than one child per family [8].

Prognosis

Since there is no known cure, a child with progeria will not live very long. Most patients usually live to the age of 13, however, some have been known to live as long as their early 20's. Heart attacks and strokes are usually the cause of death for individuals who have progeria [9].

There is a great need for more research so progeria can be cured. Finding a cure for this rare disease will help the children who are suffering and could possibly prolong their lives. It could also provide a key for treating those that are suffering from strokes and heart disease due to the aging process. Since the aging process is accelerated in the disease of progeria, researchers might be able to observe in a short period of time what might normally require many years of study [10].

Treatment

Untreated cells from children on the left and similar cells treated with FTIs

Currently, there is no cure for progeria. However, there are specific treatments that reverse or delay the effect of the disease. Some of these treatments include low-dose aspirin, physical/occupational therapy, extraction of primary teeth, and the use of certain medications. A daily dose of low-dose aspirin may help prevent heart attacks and stroke. To prevent joint stiffness and hip problems, the child may be put on a physical/occupational therapy program, allowing the child to remain active. The extraction of primary teeth prevents the child's permanent teeth from coming out before his or her baby teeth. Extraction may prevent the problem of overcrowding and developing a second row of teeth when the permanent teeth come in. [11] Recently, due to our improved technology, the first experimental drug for treatment has begun to bring hope to the people that are affected by progeria and their families. The doctors prescribe farnesyl transferase inhibitors (FTI)which boosts the patient's cardiovascular health and increases their weight gain. Originally this drug was meant to treat brain cancer, but it was not effective in helping with that disease. Other medications may also be prescribed. Statins, which lower cholesterol, or a an anticoagulant may be prescribed in order to help prevent blood clots. Growth hormones may also be utilized in order to increase the height and weight of the individual [12].

References

  1. author unknown. How common is progeria Querycat. Web. Date accessed 11/1/12.
  2. Author Unknown. Progeria Research Foundation Together We Will Find the Cure. Web. Accessed November 10, 2012.
  3. Author Unknown. Progeria Research Foundation Together We Will Find the Cure. Web. Accessed November 10, 2012.
  4. author unknown. How common is progeria Querycat. Web. Date accessed 11/1/12.
  5. author unknown. How common is progeria Querycat. Web. Date accessed 11/1/12.
  6. Mayo Clinic Staff. progeria treatment and drugs Mayo Clinic. Web. April 23 2011.
  7. author unknown. How common is progeria Querycat. Web. Date accessed 11/1/12.
  8. Author Unknown. Progeria Research Foundation Together We Will Find the Cure. Web. Accessed November 10, 2012.
  9. Author Unkown. Progeria Research Foundation Together We Will Find the Cure. Web. Accessed November 10, 2012.
  10. author unknown. How common is progeria Querycat. Web. Date accessed 11/1/12.
  11. Mayo Clinic Staff. progeria treatment and drugs Mayo Clinic. Web. April 23 2011.
  12. Mayo Clinic Staff. progeria treatment and drugs Mayo Clinic. Web. April 23 2011.