Researchers gain insights on pulmonary fibrosis

DURHAM, N.C. -- By studying the genetics of the rarer familial form of pulmonary fibrosis, Duke University Medical Center researchers hope to gain broader insights into the more common forms of this devastating lung disease, which claims the lives of half its sufferers within five years.

In the largest U.S. study of families in which more than one member has been diagnosed with the disease, the researchers have determined that it appears to strike patients at a younger age (average age at diagnosis is 58), and that it predominantly affects Caucasians (92 percent).

The researchers believe that, like most diseases, the cause of pulmonary fibrosis will likely be a complex interplay between susceptibility genes and environmental factors, such as inhaled agents or dusts. While the researchers have yet to pinpoint a gene or genes for the disease, they say the key to unlocking the cause or causes will come from sophisticated analysis of large numbers of affected families.

To date, the researchers have complete genetic and clinical information on 125 affected members of 38 families; 68 more families are in various stages of analysis. The researchers are continuing to look for eligible participants.

The results of the team's study of the first 38 families were prepared for presentation Friday in a poster session during the International Congress of Human Genetics in Vienna, Austria.

Pulmonary fibrosis occurs when the thin layer of tissue around the lung's alveoli -- the tiny air sacs where gases are exchanged with the blood -- becomes damaged. The resulting scar tissue limits the lung's ability to take in oxygen and get rid of carbon dioxide. There are many forms of the disease, with the familial form estimated to make up 5 percent to 10 percent of all pulmonary fibrosis cases.

"This is the only ongoing program in the U.S. that is systematically studying the genetic basis of pulmonary fibrosis," said

Contact: Richard Merritt
Duke University Medical Center

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