Hutchinson-Gilford Progeria Syndrome Essay

Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

     Progeria is a rare disorder; therefore, the transmission of the disease from parent to offspring is not a likely occurrence. However, when the disease is transmitted both mother and father must carry a mutant gene. If just one parent is carrying a single mutant gene, they will not show any symptoms of Progeria and will not pass it along to their offspring. When both parents carry the gene, their offspring now has a 25% chance of being born with Progeria..

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

Progeria is a disease of children that produces rapid aging. The exact cause of progeria is

It is a known fact that all measures of physiological function decline in human aging. While genetics certainly play a role in the declining of physiological function with age, it can be argued that a fundamental part of aging can be reflected by chemical processes resulting in the appearance of harmful side products of the normal metabolism over time. When enzymes speed up reactions it is harder to slow them down. At the same time side reactions are constantly occurring and more and more unwanted side products are continuously being formed.

Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences(no author, first treatment

Jonathan Hutchinson in 1886, and eleven years later by Dr. Hastings Gilford, using the two names the disease got its first name Hutchinson Gilford syndrome. Both doctors stating the scene of pre-matured kids. Currently humans are the most discussed primary organism to be affected by Progeria. As said in the beginning, Progeria is extremely rare, so rare that approximately only one in four to eight million newborns get it. With those odds said, it approximated that only 200-250 kids worldwide have this condition. Now parents usually don’t pass down progeria to their children, and both boys and girls have equal chances of getting this disease. In the race to help ease/cure the effects of progeria, there was an European clinical trials, created mice to model the effects of progeria, they did this by injecting the genetic mutation G608G, which is the genetic mutation responsible for progeria in humans with progeria. After 3 weeks were over many of the mice had started to show the symptoms of progeria, such as weight loss, growth defects, and cardiovascular and metabolic anomalies. These mice were later on, used to find a “mutation-targeted treatment”. With the new treatment developed, the Europeans were able to increase the mice’s lifespan from 155 days to 190 days, adding a stunning 35 days more to the mice’s lives. One of the major impacts that this disease, was made by a 17 year old boy named Sam Burns, he became increasingly popular

Hutchinson-Gilford Progeria Syndrome is a condition in a child that has rapid growth at an early stage of childhood. The accelerating age starts in early infancy, where the child will grow slower than other children, but normal when first born. Usually the "failure to thrive" happens in the first year after being born. This condition does not stop the development of motor skills, like sitting, standing, and walking. The child will also have a normal immune system that helps with healing normally after being sick or getting scrapes/ cuts. This condition over time is life threatening to children who have been diagnosed with the progeria syndrome. Severe hardening of arteries occurs in the younger years of children, causing them to have heart attacks and strokes. Deaths have been between ages six and twenty years, the life span is usually 14.6 years after being diagnosed with the syndrome.

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

Hutchinson- Gilford Progeria Syndrome is reported about 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome equally affects both sexes and races of children and gives them an appearance of rapid aging (Nordqvist 1). The symptoms of this disease show around eighteen to twenty-four months of

For example, a girl called Hayley Okines was diagnosed with Progeria at two years of age died at age 17. She had the body of a 104 year old person. Also she had limited growth, hair loss, swollen veins and joint abnormalities. These are all symptoms of Progeria. This disease occurs because of the over multiplying of prelamin A, which causes the normal nucleus to become lumpy and uneven. (Picture of Progeria Cell Nucleus) The Genetics Home Reference explains: “This mutation changes a single DNA building block (nucleotide) in the gene. Specifically, the mutation replaces the nucleotide cytosine with the nucleotide thymine...This mutation...refers to the position in the lamin A protein affected by the mutation. The...mutation leads to an abnormal version of the lamin A protein called progerin, which is missing 50 amino acids near one end...” (Anon.,