[HTML][HTML] CFTR activity and mitochondrial function

AG Valdivieso, TA Santa-Coloma - Redox biology, 2013 - Elsevier
Redox biology, 2013Elsevier
Cystic Fibrosis (CF) is a frequent and lethal autosomal recessive disease, caused by
mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator
(CFTR). Before the discovery of the CFTR gene, several hypotheses attempted to explain
the etiology of this disease, including the possible role of a chloride channel, diverse
alterations in mitochondrial functions, the overexpression of the lysosomal enzyme α-
glucosidase and a deficiency in the cytosolic enzyme glucose 6-phosphate dehydrogenase …
Abstract
Cystic Fibrosis (CF) is a frequent and lethal autosomal recessive disease, caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Before the discovery of the CFTR gene, several hypotheses attempted to explain the etiology of this disease, including the possible role of a chloride channel, diverse alterations in mitochondrial functions, the overexpression of the lysosomal enzyme α-glucosidase and a deficiency in the cytosolic enzyme glucose 6-phosphate dehydrogenase. Because of the diverse mitochondrial changes found, some authors proposed that the affected gene should codify for a mitochondrial protein. Later, the CFTR cloning and the demonstration of its chloride channel activity turned the mitochondrial, lysosomal and cytosolic hypotheses obsolete. However, in recent years, using new approaches, several investigators reported similar or new alterations of mitochondrial functions in Cystic Fibrosis, thus rediscovering a possible role of mitochondria in this disease. Here, we review these CFTR-driven mitochondrial defects, including differential gene expression, alterations in oxidative phosphorylation, calcium homeostasis, oxidative stress, apoptosis and innate immune response, which might explain some characteristics of the complex CF phenotype and reveals potential new targets for therapy.
Elsevier