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Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype

2019-06-19Journal article Restricted access
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dc.contributor.authorBrandão, Sofia R.
dc.contributor.authorFerreira, Rita
dc.contributor.authorRocha, Hugo
dc.date.accessioned2020-05-03T20:19:07Z
dc.date.available2020-05-03T20:19:07Z
dc.date.issued2019-06-19
dc.description.abstractMitochondrial fatty acid β-oxidation disorders (FAOD) are among the diseases detected by newborn screening in most developed countries. Alterations of mitochondrial functionality are characteristic of these metabolic disorders. However, many questions remain to be clarified, namely how the interplay between the signaling pathways harbored in mitochondria contributes to the disease-related phenotype. Herein, we overview the role of mitochondria on the regulation of cell homeostasis through the production of ROS, mitophagy, apoptosis, and mitochondrial biogenesis. Emphasis is given to the signaling pathways involving MnSOD, sirtuins and PGC-1α, which seem to contribute to FAOD phenotype, namely to multiple acyl-CoA dehydrogenase deficiency (MADD). The association between phenotype and genotype is not straightforward, suggesting that specific molecular mechanisms may contribute to MADD pathogenesis, making MADD an interesting model to better understand this interplay. However, more work needs to be done envisioning the development of novel therapeutic strategies.pt_PT
dc.description.sponsorshipThis work was supported by the Fundação para a Ciência e a Tecnologia (FCT, Portugal), European Union, QREN, FEDER and COMPETE for funding the QOPNA research unit (PEst-C/QUI/UI0062/2013); and by Portuguese Mass Spectrometry Network (RNEM) (LISBOA01–0145-FEDER-402–022125).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationArch Physiol Biochem. 2019 Jun 19;1-7. doi: 10.1080/13813455.2019.1628065. [Epub ahead of print]pt_PT
dc.identifier.doi10.1080/13813455.2019.1628065pt_PT
dc.identifier.issn1381-3455
dc.identifier.urihttp://hdl.handle.net/10400.18/6593
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherInforma Healthcarept_PT
dc.relation.publisherversionhttps://www.tandfonline.com/doi/full/10.1080/13813455.2019.1628065pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectFatty Acid β-oxidationpt_PT
dc.subjectMitochondrial Dynamicspt_PT
dc.subjectMultiple acyl-CoA dehydrogenase Deficiencypt_PT
dc.subjectNewborn Screeningpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleExploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotypept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/COMPETE/PEst-C%2FQUI%2FUI0062%2F2013/PT
oaire.citation.endPage7pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleArchives of Physiology and Biochemistrypt_PT
oaire.fundingStreamCOMPETE
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationcefc5003-39e1-47fb-9a4d-188116bfe083
relation.isProjectOfPublication.latestForDiscoverycefc5003-39e1-47fb-9a4d-188116bfe083

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