As much as i love to learn about commonly known dieseases in class one diesease that striked me as i was watching a tv show last year was progeria. Progeria is derived from the Greek work meaning prematurely old. Jonathan Hutchinson and Hastings Gilford discovered the syndrome in 1886. The name Hutchinson Gilford progeria syndrome existed because of this. doctors have discovered a single gene mutation responsible for Hutchinson-Gilford progeria syndrome. The gene is called lamin A this is the protein necessary for holding the center of a cell together.
Researchers believe the genetic mutation enables the cell to be unstable, which appears to lead to progeria’s characteristic aging process. As newborns with progeria it usually appear normal but as times progess the cchildrens growth ceases and they start developing characteristics of the eldelry. A study from the Netherlands has shows that 1 in 4 million births (within the Netherlands) are diagnoesed with progeria Currently, there are 80 known cases in the world. Approximately 140 cases have been reported in medical history.
Classical Hutchinson-Gilford Progeria Syndrome is usually caused by a odd mutation taking place during the early stages of embryo development. It is almost never passed on from affected parent to child, as affected children rarely live long enough to have children themselves. There’s no cure for progeria Regular monitoring for cardiovascular disease may help with managing your child’s condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries to slow the progression of cardiovascular disease.
Drugs known as FTIs, which were developed for treating cancer, have shown hope in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently are being studied in human clinical trials for treatment of progeria. interstingly Children affected with progeria age rapidly – about 7 to 10 times faster than normal which means their looks and physiology resemble a 70- to 80-year-old person, but they keep a dwarfish child-like body. Death usually occurs between the ages of 12 and 14 years.
This generally happens as a result of cardiovascular deterioration, which includes things atherosclerosis, myocardial infarction, and congestive heart failure. Typically doctors will not find the following features usually dealing with aging Tumors, Cataracts, Hearing Loss, Diabetes. The outcome is very poor and that is because death always occurs in cases of Progeria. There is currently no cure for this mortal disease and the only treatment is to simply deal with the reducing the complications that come up such as the cardiovascular deterioration.
The earliest influences of progeria on popular culture occurred in the 1922 short story The Curious Case of Benjamin Button by F. Scott Fitzgerald (and later released as a feature film in 2008). The main character, Benjamin Button, is born as a seventy-year-old man and ages backwards; it has been suggested that this was inspired by progeria. Also Charles Dickens may have described a case of progeria in the family of Smallweed of Bleak House, specifically in the grandfather and his grandchildren Judy and twin brother Bart.
A Bollywood movie Paa was made about the condition and in it the lead character (Amitabh Bachchan) played an 11-year-old child affected by progeria. The movie Renaissance deals with progeria. In episode sixteen of the first season of the television show The X-Files, the corrupt doctor had experimented on children with Progeria. In the 4 book series Otherland by Tad Williams one of the main characters suffers from progeria. in 1978 book When Bad Things Happen to Good People, which explores God and the problem of evil, was written in response to his 14 year old son’s death by progeria.
Amd lastly South African artist/hip hop artist Leon Botha was one of the oldest known Progeria sufferers, surviving to the age of 26 before his death in June 2011 in conclusion progeria is a diesease that has effected many and kiled many children altering their life immensly. the fact that there is no cure for this diesease is some what a hard truth for patients with this diesease. socially also many progeria patients are not accepted because of their physical abnormalities and disfigures. Never the less exstensive research has been sought out in order to cure and treat progeria.