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Gene is discovered for rapid aging disease in children

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John Tacket, who has progeria syndrome, says he is just a regular guy who is "very content" even though he knows his disease is fatal.

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WASHINGTON (CNN) -- Researchers, led by a team of scientists at the National Human Genome Research Institute, have discovered the gene responsible for progeria, the rare and fatal genetic condition that causes accelerated aging in children.

The Progeria Research Foundation and the National Institutes of Health announced Wednesday that scientist were able to isolate the gene within just a year of beginning research.

"Isolating the progeria gene is a major achievement for the medical research community," said Francis Collins, director National Human Genome Research Institute and senior author on the report. "The discovery not only gives hope to children and families affected by progeria, but also may shed light on the phenomenon of aging and cardiovascular disease."

The disease, also known as Hutchinson-Gilford progeria syndrome (HGPS) occurs once in approximately 8 million births. It affects both sexes and all races.

Children are usually diagnosed within two years. Symptoms included delayed tooth formation, hair loss, aging skin, arthritis, osteoporosis and heart disease.

Children with HGPS appear to age at a rate that is 5 to 10 times the normal rate. They die at an average age of 13 from complications of cardiovascular disease or arteriosclerosis -- hardening of the arteries. No cure for the disease is known.

Dr. Leslie Gordon founded the Progeria Research Foundation with her husband, Dr. Scott Berns. Their son Sam was diagnosed with progeria a few months before his second birthday. Gordon said the foundation will continue to lead the fight against the disease.

"Isolating this gene is just the beginning," she said. "It is our goal to find treatments and possibly a cure for this rare, life-threatening disease that robs children of their adulthood."

Gordon said the foundation hopes to develop a genetic test for progeria within eight weeks.

According to researchers, progeria is caused by a single-letter misspelling in a gene on chromosome 1. They found 18 of 20 children with classic progeria had the exact same misspelling in the Lamin A gene. Lamin A is a protein that is a key component of the membrane that surrounds the cell's nucleus.

The studies showed that almost half of the progeria patients cells had misshapen nuclear membranes.

Hutchinson-Gilford progeria syndrome was first seen in England in 1886. Since then, more than 100 cases have been identified around the world.


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