Literature Review Paper On Progeria

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

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.

How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

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.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Schindler disease type III is intermediate in severity between types I and II. Affected individuals

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

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.

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

As of 2012, Progeria Research Foundation provided over 3 million dollars for progeria related research projects performed in many states and in 6 other countries. As of right now, there are not any treatments to help cure progeria but there are some medications to help some of the problems such as arthritic, respiratory, and cardiovascular problems and to help make people living with progeria more comfortable. Doctors suggest that children with Progeria take aspirin to help with their heart health. Once the child has hypertension, strokes or seizures, the child will take medicines similar to what adults would take for these

Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, genetic childhood disorder with a reported incidence of about one in a million. Hutchinson reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome’s senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have “plucked bird” appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this

Affecting 1 in every 4-8 million people worldwide, Hutchinson-Gilford Progeria syndrome is a rare and fatal genetic condition characterized by the appearance of rapid aging in children. It affects both sexes and all races equally. It is caused by a mutation in the gene called LMNA, which produces the lamin A protein, a structural scaffold that holds the nucleus of a cell together. The abnormal form of the lamin A is called progerin, and it causes the nucleus to be unstable. Progeria is an autosomal dominant disorder; however, in almost all cases it occurs as a spontaneous mutation. It is a point mutation, meaning it’s just a one letter typo.

After diagnosing and studying Progeria in children, German scientist, Otto Werner discovered Adult Progeria, which was named after him called, Werner’s Syndrome. Too like Progeria in the children, the same effects but in adults starting as early as the age of twenty-one. Werner’s Syndrome classified by the development of a distinctive high pitch voice, cataracts in both eyes and a number of health problems that stem from the disorder. During teenage years one may not even appear to have symptoms of this particular condition, however by the early twenties, it is more obvious. This disorder has commonly been identified in Japan