A gene that causes premature aging has been found

Avi Blizovsky

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Two teams of scientists reported Wednesday, April 16, 2003, that they have found a genetic mutation that causes children to die young with symptoms of old age. The researchers also say that the research will be used both to find a cure for this disease and to give an in-depth look at the normal aging process.
Children infected with Hutchinson-Gilford progeria die 5 to 10 times faster than normal humans. They lose their hair, the skin peels and wrinkles and they die of atherosclerosis or hardening of the arteries at the beginning of their second decade of life. There is no cure for this disease, and until two teams of researchers finished their work, the gene that causes the disease was not known either.
Now teams in the USA and France have reported that they found a defect in the gene that controls the structure of the nucleus - the part of the cell where most of the genes and chromosomes are located.
The mutation, found in children suffering from progeria all over the world, caused the nucleus to become unstable, and this affected almost every cell in the body, except for the brain.

"The nucleus is usually a nice, rounded structure," said Dr. Leslie Gordon of Tufts University in Boston, who led the American team. "In the children with the damaged genes, bubbles form. This creates instability and causes the cells to die. According to him, now it will be possible to find a cure for the children," she said.
"The implications of our work may extend beyond progeria - to each of us - added Dr. Francis Collins from the National Human Genome Research Institute in the USA. "What we learn about the molecular basis of the premature aging model may provide us with a better understanding of what happens in the body as we all age."

We hope to stop the development of the abnormal protein in the children suffering from progeria - a rare disease that affects one in every 4 million children.
Apparently this mutation is created in the father's sperm because it affects only half of the DNA. The mutation causes the production of an abnormal protein that hijacks and takes over the creation of the cells. The mutated gene, called LMNA, controls the protein called Lamin A. Another team headed by Nicolas Levy from the Faculty of Medicine Timon in Marseille, France also found the same mutation.
Gordon believes that pharmaceutical companies will be interested in developing a cure for the disease mainly because of its implications for treating conditions that ultimately affect each of us. "These children have the same calcium leakage that other people in their sixties, seventies and eighties have. Gordon said.
Progeria is not a hereditary disease. It is known as a random disease, occurring without any pattern. That is why it was important to discover that the same patterns appeared in all the sick children who participated in the study. The findings of the two teams were published in the two competing magazines - Science and Nature.
Other researchers have found the genetic causes of a similar disease called Warner syndrome, which causes premature aging in the teens and twenties. There is no connection between the two diseases, said Gordon.

He knew genetic medicine
For news on the subject in the journal Nature
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