Cystic fibrosis gene linked to fatty acid defects

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Researchers already understood that the defective CFTR gene causes CF, explains senior author Steven D. Freedman, M.D., Ph.D., of the gastroenterology division at BIDMC and associate professor of medicine at Harvard Medical School. “But we didn’t understand how this defective gene leads to the symptoms of the disease. This new study sheds light on what may be happening and provides a link between CFTR function and fatty acid metabolism.”

Certain fatty acids, such as AA and DHA acid, are important in controlling a variety of biologic functions, including inflammatory responses. In the study, the researchers examined tissue samples of 38 CF patients to determine if they exhibited an imbalance of the same fatty acids as mice had in earlier studies. As predicted, the results showed that there were abnormally high levels of AA acid and abnormally low levels of DHA acid.

Testing also revealed that parents of CF patients had fatty acid levels halfway between those of the CF patients and those of unaffected subjects. According to Brian P. O’sullivan, M.D., who led the research at UMass Memorial Medical Center, this reinforces the hypothesis that “a fatty acid defect is a basic problem in CF and not just a reflection of a disease state.”