Cargando…

CFTR activity and mitochondrial function()

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 t...

Descripción completa

Detalles Bibliográficos
Autores principales: Valdivieso, Angel Gabriel, Santa-Coloma, Tomás A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757715/
https://www.ncbi.nlm.nih.gov/pubmed/24024153
http://dx.doi.org/10.1016/j.redox.2012.11.007
_version_ 1782282252694061056
author Valdivieso, Angel Gabriel
Santa-Coloma, Tomás A.
author_facet Valdivieso, Angel Gabriel
Santa-Coloma, Tomás A.
author_sort Valdivieso, Angel Gabriel
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3757715
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-37577152013-09-10 CFTR activity and mitochondrial function() Valdivieso, Angel Gabriel Santa-Coloma, Tomás A. Redox Biol Review Article 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 2013-02-05 /pmc/articles/PMC3757715/ /pubmed/24024153 http://dx.doi.org/10.1016/j.redox.2012.11.007 Text en © 2013 The Authors http://creativecommons.org/licenses/BY-license/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
spellingShingle Review Article
Valdivieso, Angel Gabriel
Santa-Coloma, Tomás A.
CFTR activity and mitochondrial function()
title CFTR activity and mitochondrial function()
title_full CFTR activity and mitochondrial function()
title_fullStr CFTR activity and mitochondrial function()
title_full_unstemmed CFTR activity and mitochondrial function()
title_short CFTR activity and mitochondrial function()
title_sort cftr activity and mitochondrial function()
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757715/
https://www.ncbi.nlm.nih.gov/pubmed/24024153
http://dx.doi.org/10.1016/j.redox.2012.11.007
work_keys_str_mv AT valdiviesoangelgabriel cftractivityandmitochondrialfunction
AT santacolomatomasa cftractivityandmitochondrialfunction