Progeria Is a Somewhat Mysterious

SAMPLE EXCERPT:

The scientists concede that the increased presence of the acid is unique to progeria patients and others that suffer with other ageing conditions.

There are also other Genetic and chromosomal abnormalities that are characteristic of the syndrome. Studies conducted using cultured fibroblasts have shown that there is a reduced potential in-vitro growth in Progeria patients. There is also evidence the children that have the condition have shortened replicative life span. (Dyer and Sinclair)

It is believed that the cause of Progeria is due to a mutant gene. According to the Progeria Research Foundation,

Progeria is considered to be the result of a dominant mutation because the gene in question has one normal copy and one abnormal copy, as opposed to a recessive mutation in which both copies are abnormal. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic new mutation which happens at the time of conception." ("What is Progeria?")

Studies have found that there are certain patterns that occur in the families of children with Progeria. For instance, the parents of these children are usually at least six years apart in age which is above the national average of two years. In addition researchers have discovered that siblings or identical twins in the same family usually do not have the condition. ("What is Progeria?")

Children with this condition usually die in the beginning of their second decade. Death usually occurs in the early teenage years-although some patients live to their early twenties. Death is usually caused by heart failure and myocardial infarction. (Dyer and Sinclair)

Recent Developments

Although there is no cure for the disease, in recent weeks scientists have isolated the gene that causes the condition. The discovery was made by scientists at the National Human Genome Research Institute. Remarkably it only took the scientist one year to isolate the gene. CNN reported that,

Progeria is caused by a single-letter misspelling in a gene on chromosome 1. They found 18 of 20 children with classic progeria had the exact same misspelling in the Lamin A gene. Lamin A is a protein that is a key component of the membrane that surrounds the cell's nucleus. The studies showed that almost half of the progeria patient's cells had misshapen nuclear membranes."("Gene is discovered for rapid aging disease in children")

This development is important because it allows scientist to develop a genetic test for the condition.

The genetic test will allow parents to see if they carry the gene before they conceive so that the necessary precautions can be taken. It will also allow researchers to potentially find a cure and treatments for the condition.

Conclusion

The purpose of this discussion was to explore the various aspects of the condition known as Progeria. We began by defining Progeria. We found that the condition is rare and only affects about 35 children in the entire world. Our discussion then focused on the characteristics and causes of the condition. Our research found that individuals with the disorder often have aged skin, dwarfism and baldness. We also found that the condition is caused by a mutant gene. Finally, we discussed recent developments that may aid in the prevention and treatment of the disease. We found that in recent weeks scientists have isolated the gene and are in the process of developing a genetic test that will enable them to identify the gene so that the condition can be treated.

Works Cited

Dyer, Christopher A.E., Sinclair, Alan J. The premature ageing syndromes: insights into the ageing process. Age and Ageing. Issue: Jan, 1998

Gene is discovered for rapid aging disease in children." 17 April 2003. CNN News. April 28, 2003. http://www.cnn.com/2003/HEALTH/conditions/04/17/aging.gene/

Introduction." 2003. Hutchinson-Gilford Progeria Syndrome. April 28, 2003. http://www.hgps.net/

What is Progeria." 2003 The Progeria Research Foundation.…