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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2013
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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 |
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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 |