Literature Review Paper On 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.

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

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.

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

If someone had the disease then they would have to extend everything. The occurrence in the general public is around 2000-3000. The disease is really just neutral, as crying like a cat won’t

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.

Because the genetic change is not an inherited disorder but rather due to random error during development, there is no specific race, gender, or regions in the world that are affected more than the other (Cassidy, 2012). The most common abnormality associated with PWS is due to the deletion of the paternal chromosome 15, which is found in approximately 70% of cases. Another possibility is due to maternal uniparental disomy which occurs in about 25% of cases. This is when the child does not inherit the paternal copy of chromosome 15, but instead receives two copies from the mother. The last 5% of cases is another form of genetic imprinting where the father’s chromosome 15 is present, but are not functional known as microdeletion (Griggs, 2015). Although research has narrowed down the region of the affected chromosome, the specific genes that are involved have yet to be found. There are also no solid indicators as to how they play into the development of PWS symptoms (Khor, 2016).

They are involved because the LMNA gene produces several slightly different proteins called laminas, of the major ones being Lamin A (also known as progerin) and Lamin C. These proteins are generally made throughout the whole body’s cells. The disease is causes the LMNA gene which to become mutated. Althought, this does not causes any harm to lamin c protein, it causes the lamin A protein to misshape, by missing out on 50 amino acids near one end. This is bad because the lamin A protein is a component the nuclear cell membrane. This misshaped version of lamin A is which is responsible for the disorder; it makes it so that it cannot be processed properly in a cell, which then causes a disrupted shape in the nuclear envelope. All in this mutation damages a cell’s structure and function to a nucleus which in turn causes the cells to die

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

Regulation does not demonstrate to reduce criminalization. According to Drug Policy Alliance claim, “the drug war has actually done more harm than problematic drug use itself, by breaking up families, putting millions of people behind bars, burdening even more people with a life-long criminal record, …“(2015). Having streak regulation on drug does not reduce criminalization because United States have put more people in prison for drug offenses which they are non-violent offender who can do their time out of prison. Peter Moskos argue that, “Drug addiction won't go away, but tax revenue can help pay for treatment“(2008). They are some dangerous drugs that should not be legalize such as cocaine, methamphetamine and other drugs that can cause

I was struck by a few interesting points while reading the article Educational Demographics: What Teacher Should Know by Harold Hodgkinson. I found it true and interesting how the author mentions that teachers are often not involved in policy decisions and discussions that affect the schools. I know it’s true in my district. State and federal policy makers are often not teachers, and don’t always promote what is actually best for schools. The people making the decisions are often more business orientated, and don’t take the recommendations of the teachers. It is often hard to get teachers involved in policymaking or even local union decisions. My district is approaching a negations year, and the leaders of the Union are having a hard time

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