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dc.contributor.authorFernández-Ayala, Daniel J. M.es_ES
dc.contributor.authorGuerra, Ignacioes_ES
dc.contributor.authorJiménez-Gancedo, Sandraes_ES
dc.contributor.authorCascajo Almenara, M. V.es_ES
dc.contributor.authorGavilán, Angelaes_ES
dc.contributor.authorDiMauro, Salvatorees_ES
dc.contributor.authorHirano, Michioes_ES
dc.contributor.authorBriones, Pazes_ES
dc.contributor.authorArtuch, Rafaeles_ES
dc.contributor.authorCabo, Rafael dees_ES
dc.contributor.authorSalviati, Leonardoes_ES
dc.contributor.authorNavas, Plácidoes_ES
dc.date.accessioned2016-02-16T12:40:36Z-
dc.date.available2016-02-16T12:40:36Z-
dc.date.issued2013-
dc.identifier.citationBMJ Open 3(3): e002524 (2013)es_ES
dc.identifier.issn2044-6055-
dc.identifier.urihttp://hdl.handle.net/10261/129137-
dc.descriptionThis is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License.es_ES
dc.description.abstract[Objectives]: Coenzyme Q10 (CoQ10) deficiency syndrome is a rare condition that causes mitochondrial dysfunction and includes a variety of clinical presentations as encephalomyopathy, ataxia and renal failure. First, we sought to set up what all have in common, and then investigate why CoQ10 supplementation reverses the bioenergetics alterations in cultured cells but not all the cellular phenotypes. [Design Modelling study]: This work models the transcriptome of human CoQ10 deficiency syndrome in primary fibroblast from patients and study the genetic response to CoQ10 treatment in these cells. [Setting]: Four hospitals and medical centres from Spain, Italy and the USA, and two research laboratories from Spain and the USA. [Participants]: Primary cells were collected from patients in the above centres. [Measurements]: We characterised by microarray analysis the expression profile of fibroblasts from seven CoQ10-deficient patients (three had primary deficiency and four had a secondary form) and aged-matched controls, before and after CoQ10 supplementation. Results were validated by Q-RT-PCR. The profile of DNA (CpG) methylation was evaluated for a subset of gene with displayed altered expression. [Results]: CoQ10-deficient fibroblasts (independently from the aetiology) showed a common transcriptomic profile that promotes cell survival by activating cell cycle and growth, cell stress responses and inhibiting cell death and immune responses. Energy production was supported mainly by glycolysis while CoQ10 supplementation restored oxidative phosphorylation. Expression of genes involved in cell death pathways was partially restored by treatment, while genes involved in differentiation, cell cycle and growth were not affected. Stably demethylated genes were unaffected by treatment whereas we observed restored gene expression in either non-methylated genes or those with an unchanged methylation pattern.es_ES
dc.description.sponsorshipThis work was supported by the following funders: Spanish Ministerio de Sanidad (FIS) grant numbers PI11/00078 and PI11/02350; National Institutes of Health (NIH, USA) grant number 1R01HD057543; Junta de Andalucía (Spanish Regional Government) grant number CTS-3988; Telethon (Italy) grant number GGP09207; and from a grant from Fondazione CARIPARO.es_ES
dc.language.isoenges_ES
dc.publisherBMJ Publishing Groupes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rightsopenAccesses_ES
dc.subjectBasic scienceses_ES
dc.subjectGeneticses_ES
dc.titleSurvival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencieses_ES
dc.typeartículoes_ES
dc.identifier.doi10.1136/bmjopen-2012-002524-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttp://dx.doi.org/10.1136/bmjopen-2012-002524es_ES
dc.rights.licensehttp://creativecommons.org/licenses/by-nc/3.0/es_ES
dc.contributor.funderMinisterio de Sanidad, Servicios Sociales e Igualdad (España)es_ES
dc.contributor.funderInstituto de Salud Carlos IIIes_ES
dc.contributor.funderJunta de Andalucíaes_ES
dc.contributor.funderFondazione Cassa di Risparmio di Padova e Rovigoes_ES
dc.relation.csices_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003751es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100007479es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100004587es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100011011es_ES
dc.identifier.pmid23533218-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextopen-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
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