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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.accessioned2023-02-27T15:52:09Z
dc.date.available2023-02-27T15:52:09Z
dc.date.issued2022-11-11
dc.descriptionReviewpt_PT
dc.descriptionThis article belongs to the Special Issue Lipid Metabolism in Pathology and Health.pt_PT
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 efficacy.pt_PT
dc.description.sponsorshipThis research was funded by FCT/MEC (PIDDAC) for their financial support to LAQVREQUIMTE (UIDB/50006/2020), CESAM (UIDP/50017/2020 + UIDB/50017/2020 + LA/P/0094/2020), and the RNEM-Portuguese Mass Spectrometry Network (LISBOA-01-0145-FEDER-402-022125), financed by FCT/MCTES through national funds and, where applicable, co-financed by the FEDER, within the PT2020 Partnership Agreement and Compete 2020. Ana Moreira thanks the research contract under the research unit LAQV-REQUIMTE. Inês M. S. Guerra (2021.04754.BD) and Helena B. Ferreira (2020.04611.BD) are grateful to FCT for the PhD grants. Tânia Melo thanks the Junior Researcher contract in the scope of the Individual Call to Scientific Employment Stimulus 2020 (CEECIND/01578/2020). The authors are thankful to the COST Action EpiLipidNET, CA19105-Pan-European Network in Lipidomics, and EpiLipidomics.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInt J Mol Sci. 2022 Nov 11;23(22):13933. doi: 10.3390/ijms232213933. Reviewpt_PT
dc.identifier.doi10.3390/ijms232213933pt_PT
dc.identifier.issn1661-6596
dc.identifier.urihttp://hdl.handle.net/10400.18/8528
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relationAssociated Laboratory for Green Chemistry - Clean Technologies and Processes
dc.relationCentre for Environmental and Marine Studies
dc.relationCentre for Environmental and Marine Studies
dc.relation.publisherversionhttps://www.mdpi.com/1422-0067/23/22/13933pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCPT2Dpt_PT
dc.subjectFAODpt_PT
dc.subjectLCHADDpt_PT
dc.subjectMCADDpt_PT
dc.subjectVLCADDpt_PT
dc.subjectInborn Errors of Metabolismpt_PT
dc.subjectLipid Changespt_PT
dc.subjectLipidomicspt_PT
dc.subjectMass Spectrometrypt_PT
dc.subjectOxidative Stresspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Reviewpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleAssociated Laboratory for Green Chemistry - Clean Technologies and Processes
oaire.awardTitleCentre for Environmental and Marine Studies
oaire.awardTitleCentre for Environmental and Marine Studies
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F50006%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F50017%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F50017%2F2020/PT
oaire.citation.issue22pt_PT
oaire.citation.startPage13933pt_PT
oaire.citation.titleInternational Journal of Molecular Sciencespt_PT
oaire.citation.volume23pt_PT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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