Progeria Is a Somewhat Mysterious Illness That

Progeria is a somewhat mysterious illness that affects children all around the globe. The rapid ageing of individuals that suffer with the condition has intrigued scientist and researchers for decades. Because the disease is so rare, very little is known about the condition. The purpose of this discussion is to explore the various aspects of this condition. We will begin by defining Progeria. Our discussion will also explore the characteristics and causes of the condition.

Finally, we will discuss recent developments that may aid in the prevention and treatment of the disease. Defining Progeria The Progeria Research Foundation defines Progeria as, "a rare genetic condition characterized by an appearance of accelerated aging in children." ("What is Progeria") An estimated 1 in 4 million children suffer with the condition. The disease affects both sexes and all races equally. The disease is usually diagnosed in the two years after the birth of the child. Currently, there are only about 35 children worldwide that have been diagnosed with the disorder.

Since the discovery of the disease there have been 100 reported cases. There are children with the condition in South Africa, South America, Australia, Mexico, Germany, the United States of America, the United Kingdom, Austria and Canada. ("What is Progeria") The word Progeria comes from the Greek language and its meaning is -- prematurely old. The Research Foundation goes on to explain that the most common form of the condition is Hutchinson-Gilford Progeria Syndrome. ("What is Progeria") The condition was first recognized by Dr. Jonathan Hutchinson in 1886 and Dr.

Hastings Gilford in 1904. The effects of the condition can be devastating on the children that have it and their families. According to the Hutchinson-Gilford Progeria Syndrome Network, Children with Progeria age at a rate that is seven times greater than the normal pace. By the time a child with progeria reaches the age of ten they have the same cardiac, respiratory and arthritic conditions as a 70-year-old. ("Introduction") Characteristics and Causes There are some common characteristics that individuals with Progeria have.

These characteristics include: severe growth retardation in infancy, hip dislocations, aged skin, dwarfism, baldness, stiff joints, pinched nose, loss of subcutaneous tissue, eyebrows and eyelashes, and small jaw and face in relation to head size. In addition, children with the condition look identical even if they are from different racial groups. ("What is Progeria") Oddly, children with the condition do not exhibit many of the ailments associated with old age such as; cataract formation, neuronal changes, diabetes mellitus, and tumors.

(Dyer and Sinclair) Individuals with Progeria also tend to have cardiovascular problems and atherosclerosis. ("What is Progeria") In addition, children with the condition have skeletal abnormalities such as resorption of distal phalanges and diffused osteoporosis. Individuals that have the condition are not mentally retarded or incapacitated. The disease does not affect the mental capacity of the sufferer in any way.

(Dyer and Sinclair) An article entitled "The premature ageing syndromes: insights into the ageing process," published in Age and Ageing magazine explains that there are also biochemical characteristics associated with the condition. One of the major biochemical characteristics is an increased level of hyaluronic acid.

The article explains, The most thoroughly investigated is the finding of 10-20 times greater urinary excretion of hyaluronic acid in patients with progeria compared with controls...Hyaluronic acid is an unsulphated glycosaminoglycan known to be involved in maintaining the integrity of skeletal, muscular and vascular systems. Alterations in hyaluronic acid concentrations are linked to processes such as scleroderma-like skin changes, collagen hardening and calcification of arterial walls.

Brown found that hyaluronic acid levels increase with age in normal subjects from around 1% of total glycosaminoglycan content to around 5-6% over the age of 70, possibly increasing further at very advanced ages. (Dyer and Sinclair) In other words researchers seem to believe that the increased presence of the acid is what causes the accelerated aging process of those with progeria.

Although the presence of the acid is a natural occurrence, the amount of acid excreted through urination indicates that the amount of hyaluronic acid is unusually high in those that suffer with the condition. 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.