Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson-Gilford Progeria syndrome (HGPS).
The earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristic of progeria. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
Cause
Hutchinson-Gilford progeria syndrome (HGPS) is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope.
Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Because these diseases display different aspects of aging but never every aspect, they are often called "segmental progerias".
Diagnosis
Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.
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A young girl with progeria (left).
A healthy cell nucleus (right, top)
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Treatment
No treatments have been proven effective. Most treatment focuses on reducing complications (such as cardiovascular disease) with heart bypass surgery or low-dose aspirin. Children may also benefit from a high-calorie diet.
Growth hormone treatment has been attempted.
A type of anticancer drug, the farnesyltransferase inhibitors (FTIs), has been proposed, but their use has been mostly limited to animal models. A Phase II clinical trial using the FTI Lonafarnib began in May 2007.
Prognosis
There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.
Mental development is not affected. The development of symptoms is comparable to aging at a rate eight to ten times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop physically mediated "wear and tear" conditions commonly associated with aging, like cataracts (caused by UV exposure) and osteoarthritis (caused by mechanical wear).
Although there may not be any successful treatments for Progeria itself, there are treatments for the problems it causes, such as arthritic, respiratory, and cardiovascular problems.
Epidemiology
A study from the Netherlands has shown an incidence of 1 in 4 million births. Currently, there are between 35 and 45 known cases in the world. Approximately 100 cases have been formally identified in medical history.
Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves.
There have been only two known cases in which it became evident that a healthy parent can carry the LMNA mutation that causes progeria. A family from India has five children with progeria; they were the subject of a 2005 Bodyshock documentary entitled The 80 Year Old Children.
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| Nabi Hussain Khan, 50, (left) with his wife Razia, 46, (right) and their children. Sanjeeda, now aged 20, (back, centre) does not have Progeria |
In the other case, a family from Belgium has two children with progeria. …
Popular culture
- The 1922 short story "The Curious Case of Benjamin Button" by F. Scott Fitzgerald (and later released as a feature film in 2008) may have been inspired by progeria. The main character, Benjamin Button, is born as a seventy-year-old man and ages backwards.
- The Hindi film Paa, released in December 2009, has its story line around progeria (starring Amitabh Bachchan playing a thirteen year old boy Auro).
- Progeria is also a central theme in the animated film Renaissance in which one of the characters finds the much sought cure.
- Orlando Gardiner of the science fiction book series Otherland suffers from this disease, and ultimately succumbs to it at the age of 14.
- On the episode "Designate This" from the series "Dark Angel", Max's "younger version" has the disease.
- Rabbi Harold Kushner, author of the well known book, "When Bad Things Happen to Good People," had a son who suffered from this disease, and likely his son's tragic illness was the impetus for this book on suffering.
- The character J.F. Sebastian in the science fiction film Blade Runner states that he suffers from "Methuselah Syndrome," clearly a form of progeria.
- Progeria was featured in the X-Files episode "Young at Heart," where a scientist studying the disease found a way to reverse the aging process.
- A disease similar to progeria, called Werner syndrome, was featured in the movie Jack (film), starring Robin Williams, in which his character aged 4 times faster than normal.
- Leon Botha, who appeared in a video for the South African conceptual rave-rap group Die Antwoord, has Progeria Syndrome.
- The Chuck Palahniuk novel Haunted includes one character, Brandon Whittier, who is dying of progeria at 13.
Source(s): wikipedia
