Thursday, July 27, 2000

Gene research at Children's provides clue to lung disease

By Tim Bonfield
The Cincinnati Enquirer

        The disease involved is rare, but a genetic discovery announced Wednesday involving a researcher at Children's Hospital Medical Center may have several implications — including new questions about a controversial diet drug.

        Scientists report that a mutation of the BMPR2 gene, which regulates development of the lungs, can cause an inherited form of primary pulmonary hypertension, an often-fatal narrowing of blood vessels in the lungs that leads to heart failure.

        The disease itself occurs about 300 times a year nationwide, primarily in women. So far, the genetic mutation has been linked only to those with a family history of the disease; about 6 percent of those 300 cases.

        The three-year study was sponsored by the National Heart, Lung and Blood Institute, an arm of the National Institutes of Health. The findings will be published in the September edition of the science journal Nature Genetics.

        “Now that we have pinpointed the gene, we can focus on how it works. That information should enable us to devise better treat ments,” said Dr. Claude Lenfant, director of the Heart, Lung and Blood Institute. The paper was co-authored by William Nichols, a genetics researcher at Children's Hospital, along with collaborators at Vanderbilt University, Indiana University and the University of Leicester in England.

        More study is needed to see if the genetic mutation also is linked to “sporadic” cases that have no record of running in families, Dr. Nichols said.

        However, there may be even more implications to the discovery.


  • Some of the people allegedly harmed by the diet drug fen-phen, which was pulled from the market in 1997, developed primary pulmonary hypertension. This study raises the question of whether those patients had a genetic makeup that allowed the diet drug to trigger the illness, Dr. Nichols said.

            „Until now, mutations of the BMPR2 gene had not been linked to lung problems. Now, other researchers may begin looking at the gene for connections to other types of lung disease, Dr. Nichols said.

            „Finally, this study is the first example out of Children's Hospital of research using data from the Human Genome Project. The near-completion of the genome project was announced a month ago. However, parts of data have been available to researchers.

            Now that the University of Cincinnati and Children's Hospital have purchased access to a private database of the entire human genetic code — a deal announced last week — many more findings like this study are expected in years to come, Dr. Nichols said.


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