Cystic fibrosis (CF) is an inherited disease caused by mutations in the gene encoding CFTR, a chloride ion channel. Among the numerous consequences of these mutations are alterations in the composition of polyunsaturated fatty acids (PUFAs) in patient tissues. We have demonstrated that these changes are due to increased expression and activity of fatty acid desaturase enzymes. Furthermore, we and others have shown that these changes likely play a role in CF pathogenesis, perhaps through excessive production of eicosanoid hormones. We continue to investigate the regulation of PUFA metabolic pathways and the role that their function or dysfunction plays in the abnormal lipid metabolism of CF. In addition, we are studying the potential role of PUFAs both as biomarkers and therapies for patients with CF.

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    Lipids Metabolism Cystic fibrosis Hematopathology