Researchers find gene critical in bone ailment

January 20, 1994|By Newsday

New research into the bone-thinning ailment called osteoporosis suggests that a single gene plays a critical role in the problem and that it probably can be used to identify people at risk decades before the disease begins, according to an Australian research team.

Once vulnerable persons are found, researchers said, exercise and dietary changes as early as childhood -- perhaps increased calcium, or additional vitamin D -- may help prevent the problem. Osteoporosis currently affects 25 million Americans, mainly older women, and causes more than a million fractures a year.

These findings could open new avenues for the development and targeting" of treatments for osteoporosis, said John Eisman and seven colleagues at the Garvan Institute of Medical Research, St. Vincent's Hospital, in Sydney, Australia.

Their research, published yesterday in the journal Nature, focused on a gene that cells use to make a relatively common molecule, the vitamin D receptor. The receptor plays a central role in calcium metabolism, including the use of calcium in bone-building.

"This is one of the most important discoveries in osteoporosis research in the past decade," said B. Lawrence Riggs, professor of medicine at the Mayo Clinic and Foundation in Rochester, Minn.

"The thing that is most exciting," Dr. Riggs added, "is that it provides a clue that vitamin D metabolism is extremely important in controlling the amount of bone that we have in our skeleton."

Also important, Dr. Riggs said, is that the genetic component didn't account for all bone mass. That means other factors that can be manipulated, such as diet, exercise or hormones, also count, and might eventually be used to compensate for a genetic deficit.

Dr. Riggs added that "the risk of getting fractures late in life is a combination of how much bone you start with and how fast you lose it. And the studies suggest that this one gene may account for about 75 percent of the genetic component," influencing how much bone is originally made.

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