CFTR activity and mitochondrial function
Abstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery of the CFTR gene, severalhypothesesattemptedtoexplaintheetiologyofthisdisease,includingthe possible roleofachl...
Guardado en:
| Autores principales: | , |
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| Formato: | Artículo |
| Lenguaje: | Inglés |
| Publicado: |
Elsevier B.V.
2019
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| Materias: | |
| Acceso en línea: | https://repositorio.uca.edu.ar/handle/123456789/8676 http://dx.doi.org/10.1016/j.redox.2012.11.007 |
| Aporte de: |
| Sumario: | Abstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe
gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery
of the CFTR gene, severalhypothesesattemptedtoexplaintheetiologyofthisdisease,includingthe
possible roleofachloridechannel,diversealterationsinmitochondrialfunctions,theoverexpressionof
the lysosomalenzyme a-glucosidaseandadeficiencyinthecytosolicenzymeglucose6-phosphate
dehydrogenase.Becauseofthediversemitochondrialchangesfound,someauthorsproposedthatthe
affectedgeneshouldcodifyforamitochondrialprotein.Later,theCFTRcloningandthedemonstration
of itschloridechannelactivityturnedthemitochondrial,lysosomalandcytosolichypothesesobsolete.
However,inrecentyears,usingnewapproaches,severalinvestigatorsreportedsimilarornew
alterationsofmitochondrialfunctionsinCysticFibrosis,thusrediscoveringapossibleroleof
mitochondriainthisdisease.Here,wereviewtheseCFTR-drivenmitochondrialdefects,including
differentialgeneexpression,alterationsinoxidativephosphorylation,calciumhomeostasis,oxidative
stress, apoptosisandinnateimmuneresponse,whichmightexplainsomecharacteristicsofthe
complexCFphenotypeandrevealspotentialnewtargetsfortherapy. |
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