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Mitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studies—a critical review

2022-11-11Journal article Open access
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dc.contributor.authorGuerra, Inês M. S.
dc.contributor.authorFerreira, Helena B.
dc.contributor.authorMelo, Tânia
dc.contributor.authorRocha, Hugo
dc.contributor.authorMoreira, Sónia
dc.contributor.authorDiogo, Luísa
dc.contributor.authorDomingues, Maria Rosário
dc.contributor.authorMoreira, Ana S. P.
dc.date.accessioned2023-02-03T13:31:31Z
dc.date.available2023-02-03T13:31:31Z
dc.date.issued2022-11-11
dc.description.abstractFatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to life-threatening complications and comorbidities. Changes in the lipidome have been associated with several diseases, including some IEMs. In FAODs, the alteration of acylcarnitines (CARs) and FA profiles have been reported in patients and animal models, but changes in polar and neutral lipid profile are still scarcely studied. In this review, we present the main findings on FA and CAR profile changes associated with FAOD pathogenesis, their correlation with oxidative damage, and the consequent disturbance of mitochondrial homeostasis. Moreover, alterations in polar and neutral lipid classes and lipid species identified so far and their possible role in FAODs are discussed. We highlight the need of mass-spectrometry-based lipidomic studies to understand (epi)lipidome remodelling in FAODs, thus allowing to elucidate the pathophysiology and the identification of possible biomarkers for disease prognosis and an evaluation of therapeutic efficacypt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGuerra, I. M. S., Ferreira, H. B., Melo, T., Rocha, H., Moreira, S., Diogo, L., Domingues, M. R., & Moreira, A. S. P. (2022). Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review. International Journal of Molecular Sciences, 23(22), 13933. https://www.mdpi.com/1422-0067/23/22/13933pt_PT
dc.identifier.doi10.3390/ijms232213933pt_PT
dc.identifier.eissn1422-0067
dc.identifier.urihttp://hdl.handle.net/10400.22/22142
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/1422-0067/23/22/13933pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectInborn errors of metabolismpt_PT
dc.subjectFAODpt_PT
dc.subjectMCADDpt_PT
dc.subjectLCHADDpt_PT
dc.subjectVLCADDpt_PT
dc.subjectCPT2Dpt_PT
dc.subjectLipid changespt_PT
dc.subjectOxidative stresspt_PT
dc.subjectLipidomicspt_PT
dc.subjectMass spectrometrypt_PT
dc.titleMitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studies—a critical reviewpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage24pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume23 (22)pt_PT
person.familyNameCarvalho de Azevedo Rocha
person.givenNameHugo Daniel
person.identifier.ciencia-id331F-6236-B34F
person.identifier.orcid0000-0001-5447-615X
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationa67d8ec6-bfd4-415f-9615-8d8c8a48166e
relation.isAuthorOfPublication.latestForDiscoverya67d8ec6-bfd4-415f-9615-8d8c8a48166e

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