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Scientists find gene that modifies severity of cystic fibrosis lung disease
Date:3/3/2009

WINSTON-SALEM, N.C. Researchers at Wake Forest University Baptist Medical Center, and colleagues, have identified a gene that modifies the severity of lung disease in people with cystic fibrosis, a lethal genetic condition. The findings open the door to possible new targets for treatment, researchers say.

The study appeared online last week in advance of print publication in Nature. It is the first published study to search the entire genome looking for genes that modify the severity of cystic fibrosis lung disease.

"This is a good example of researchers with different expertise coming together and using the knowledge gained from mapping the human genome to make discoveries that improve our understanding of cystic fibrosis," said Carl Langefeld, Ph.D., a study co-author and Wake Forest University School of Medicine researcher. "It may also help in the identification of targets for drug development and the development of tools for the earlier diagnosis of individuals with cystic fibrosis who are susceptible to severe lung disease."

After analyzing the genetic makeup of nearly 3,000 cystic fibrosis patients, researchers found that small genetic differences in a gene called IFRD1 correlate with lung disease severity. While probing how the gene might alter the disease's course, researchers discovered the protein encoded by IFRD1 is particularly abundant in a type of white blood cell called neutrophils, and that it regulates their function. Part of the immune system, neutrophils are known to cause inflammatory damage to the airways of people with cystic fibrosis.

"Neutrophils appear to be particularly bad actors in cystic fibrosis," said senior investigator Christopher Karp, M.D., the director of Molecular Immunology at Cincinnati Children's Hospital Medical Center. "They are important to the immune system's response to bacterial infection. In cystic fibrosis, however, neutrophilic airway inflammation is dysregulated, ev
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Contact: Jessica Guenzel
jguenzel@wfubmc.edu
336-716-3487
Wake Forest University Baptist Medical Center
Source:Eurekalert

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