Artículos de revistas
CFTR activity and mitochondrial function
Fecha
2013Registro en:
2213-2317
Autor
Valdivieso, Ángel Gabriel
Santa Coloma, Tomás Antonio
Institución
Resumen
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.