The discovery that cystic fibrosis (CF) patients have an imbalance of fatty acids in their tissues could help pave the way for a new treatment for this genetic disease that affects approximately 30,000 people nationwide. These findings extend previous observations from mouse studies and show that the same fatty acid abnormality occurs in humans with CF, is related to the degree of abnormality in the gene, and is not a consequence of inflammation.
These new findings, described in a study led by researchers at Harvard-affiliated Beth Israel Deaconess Medical Center (BIDMC), UMass Memorial Health Care (UMMHC) in Worcester, and Massachusetts General Hospital (MGH) appear in the Feb. 5 issue of The New England Journal of Medicine.
Characterized by chronic inflammation of the lungs, CF results in the production of an abnormally thick, sticky mucus, which leads to the development of life-threatening lung infections. Although it was initially thought that infection itself led to eventual lung failure in CF patients, it is now recognized that an excessive host inflammatory response plays a major role in the process. About 1,000 new cases of CF are identified each year, with more than 80 percent of all patients diagnosed by age 3. The median age of survival for people with CF in the United States is in the early 30s.
“Since 1989, we have known that the defective CFTR gene is responsible for CF,” explains senior author Steven D. Freedman 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.”
“CF is a very complicated disease with a variety of factors at play at the cellular level. Research such as this could lead us to a new effective tool in the fight against CF,” said Robert J. Beall, president and CEO of the CF Foundation and Cystic Fibrosis Foundation Therapeutics Inc. (CFFT). “We applaud this pioneering work by Dr. Freedman and his colleagues on fatty acids and CF, and look forward to translating this work into a tangible benefit for patients.”