Profile
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.