Facts and the Future of Progeria

Progeria is caused by a tiny point mutation in a child’s DNA, a one-letter typo in the billions of letters that make up the chromosomal book. -Progeria Research Foundation

If you haven’t heard of Progeria, chances are you know it by another name – “rapid aging” disease. Progeria, also called Hutchinson-Gilford Syndrome, HGPS and Gilford, is so rare, it only affects 1 in 8 million newborns worldwide. Children with Progeria appear normal up through the first year of their lives. At around 18 months, children with Progeria will begin to show signs of aging such as hair loss, wrinkling of the skin, body fat loss, the joints stiffen, hip dislocation, tooth formation is delayed and plaque build-up begins in the heart. Children with Progeria may also experience strokes, angina and high blood pressure. Progeria causes a child’s body to age 6-8 times faster than normal and the majority of children with Progeria are similar in appearance. Common physical characteristics of a child with Progeria include: a “beaked” nose, a narrow face, protruding eyes and they are short in stature.

Dr. Jonathan Hutchinson recorded the first Progeria case in 1886 and in 1904, Dr. Hastings Gilford recorded another case. In the nearly 120 years since it was first identified, only 100 Progeria cases have been reported. Currently there are 30-40 known cases of Progeria and while cases have been recorded all over the world, it is estimated that 97% of all children with Progeria are Caucasian and males outnumber females by a 1.5:1 ratio. Sadly, death can occur between the ages of 7-28, but the average age is 13.4 years. It is estimated that 80% of Progeria deaths are caused by congestive heart failure or heart attacks.

While the average life expectancy of a child with Progeria is less than 14 years, it is believed that the oldest case ever recorded 26 years of age. Not true. The oldest case ever recorded was a Japanese man who lived with the disease for 45 years. In this particular case, the child did not show signs of growth retardation until around 12 years of age. It was noted, however, that his head was larger than normal at the age of one and he did experience hair loss in childhood, but enjoyed a rather normal life for 12 years. By age 20, this particular subject had total Alopecia and aging began to accelerate. The subject died at the age of 45 from myocardial infarction.

According to the Progeria Research Foundation “a group of leading scientists from The Progeria Research Foundation’s Genetics Consortium was able to isolate the Progeria gene in October 2002, and in April 2003, PRF led the announcement that Progeria is caused by a mutation of the gene LMNA, or Lamin A.” While there is no cure for Progeria, because researchers, scientists and doctors now know what causes Progeria, they are currently working on treatments for the condition and other help is available to improve the quality of life. Cardiac care is available as well as nutrition and physical therapy targeted at the many symptoms associated with Progeria. Drug treatments are also being tested and according to the Mayo Clinic “new drugs that are currently used in cancer treatment have shown promise in laboratory studies as a potential therapy for Progeria. These drugs – called farnesyltransferase inhibitors – must now be tested in clinical trials.” This is promising news for Progeria sufferers and their family members.

For more information about Progeria contact:

The Progeria Research Foundation
PO Box 3453
Peabody, MA 01961-3453
email: info@progeriaresearch.org

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