Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford. The rare condition was later named Hutchinson-Gilford Progeria syndrome (HGPS). Progeria is an extremely rare condition in which aging is accelerated. Some symptoms other than the accelerated aging include: Limited growth, alopecia, and as the child gets older, their appearance changes (they tend to have a small face and jaw, pinched nose). People usually have small and very fragile bodies, like an older person and, later in life, they develop wrinkly skin, atherosclerosis (which is a condition that an artery wall thickens as the result of a build-up of fatty materials such as cholesterol, which causes heart complications), and cardiovascular problems. Progeria is a very unfortunate disorder that affects 1 in every 4 million people. For the most part, also, you live to be approximately 13 years old (even though there have been a few exceptions to that) and, to add to the sadness, there is not treatment for progeria.
II. Causes of progeria
Progeria is caused by a mutation in the LMNA gene, replacing cytosine with thymine, which then creates an unstable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope. Progeria is not caused by defective DNA repair, (like many other “age affecting” disorders) Progeria is diagnosed pretty much according to the signs and symptoms. Progeria is NOT inherited. It is considered to be an autosomal dominant condition, which means, in each cell, one copy of the mutated gene is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.
III. Symptoms
• A pinched nose
• Cardiovascular diseases
• Tumor formation
• Small jaw
• Loss of hair (alopecia)
• Scaly skin
• Voice is high pitched
• Wide eyed
• Beak shaped nose
• Head enlargement
• Diabetic
• Generalized atherosclerosis
• Thin skin
• Short in height
• Wrinkled skin on face
• Tooth formation is delayed
• Mentally stable, but physical differences
• Motion is limited
• Osteoarthritis
• Stiff joints
• Eyelashes and eyebrows are close to absent
• Narrow face
• Growth failure usually takes place during the first year of being born
• Veins visible on scalp
• Age spots
• Ears stick out
• Cataract
*List taken from-- http://www.buzzle.com/articles/progeria-facts.html
IV. What makes progeria so… “bad”?
• The average person who has progeria usually live to the age of 13 but the life span of some can reach 20 years. In Japan though, there was one exception, a man with progeria lived to be 45, (more than double the average person diagnosed with progeria).
• A person with progeria ages 7 times faster than any other person.
• People usually start to show signs of progeria (aging) by the age of 18 months.
• It is estimated that 80% of Progeria deaths are caused by congestive heart failure or heart attacks.
• There are 45 known cases of progeria in the world.
• Most people diagnosed with progeria do not develop cancer.
• Cells that are considered “unstable” lead to progeria
• Supplements for people with progeria include: ensure, boost, enlive, pediasure.
• Most people have to go to physical therapy 2 or 3 times a week to keep in good enough shape for everyday work.
• The saddest part about progeria is that a person at the age of 10 has the mental age of a 10 year old but the body of an old person.
V. Journal Article Review - http://www.ncbi.nlm.nih.gov/books/NBK1121/
Hutchinson-Gilford Progeria Syndrome
In the article “Hutchinson-Gilford Progeria Syndrome” it is said that “Hutchinson-Gilford progeria syndrome (HGPS, progeria) is characterized by clinical features that develop in childhood and resemble some features of accelerated aging.” Most symptoms vary in age according to the person, yet, for the most part, they are very consistent. A child born with progeria usually has a normal appearance at birth. Then, in about a year, the person begins to experience extreme difficulty to thrive. Then the child’s facial features begin to change and usually by the 3rd year, they lose their hair. It also states that death is usually caused by either a heart attack or a stroke. Death occurs usually betweens the age 6 and 20 with an average of 13. (This article basically “backs up” the rest of this blog.)
More On Progeria:
Go to http://www.youtube.com/watch?v=xCSzysu_flY – This is an awesome video of the life of a kid with progeria!!
Sources:
“Progeria - Wikipedia, the free encyclopedia." Wikipedia, the free encyclopedia. N.p., n.d. Web. 18 Feb. 2011.
"PubMed Health - Progeria." National Center for Biotechnology Information. N.p., n.d. Web. 18 Feb. 2011.
"Progeria." Manbir Online ... for Health & Fitness. N.p., n.d. Web. 18 Feb. 2011.
date., this. "Progeria : Aging starts in Childhood | Medchrome." MEDCHROME - ONLINE MEDICAL MAGAZINE. N.p., n.d. Web. 18 Feb. 2011.
"Progeria Research Foundation | The Science behind Progeria." Progeria Research Foundation | Home. N.p., n.d. Web. 18 Feb. 2011.
www.buzzle.com/articles/progeria-facts.html
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