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Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics

2025-05-01Artigo científico Acesso aberto
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dc.contributor.authorGuerra, Inês
dc.contributor.authorRocha, Hugo
dc.contributor.authorMoreira, Sónia
dc.contributor.authorGaspar, Ana
dc.contributor.authorFerreira, Ana C.
dc.contributor.authorSantos, Helena
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorCastro-Chaves, Paulo
dc.contributor.authorMelo, Tânia
dc.contributor.authorGoracci, Laura
dc.contributor.authorDomingues, Pedro
dc.contributor.authorMoreira, Ana S.P.
dc.contributor.authorDomingues, M. Rosário
dc.date.accessioned2026-02-12T11:07:22Z
dc.date.available2026-02-12T11:07:22Z
dc.date.issued2025-05-01
dc.description.abstractFatty acid (FA) oxidation disorders (FAOD) are characterized by accumulation of specific acylcarnitines (CAR)and FA and can lead to potentially severe complications. In this study, dried blood spots (DBS) combined with LC-MS lipidomics analysis were used to assess lipidome plasticity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD), long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), compared to control (CT) individuals, for screening potential prognostic biomarkers. Statistically significant variations were found in CAR, biomarkers for FAOD diagnosis, but other lipid species showed variations depending on the FAOD. Common changes in all FAOD included a few phosphatidylcholine (PC) lipid species, notably an up-regulation of LPC 16:1, possibly associated with a higher risk of cardiovascular disease (CVD). In LCHADD and VLCADD, an up-regulation of odd-chain PC (PC 33:0, PC 35:4 and PC 37:4) was observed. VLCADD exhibited higher levels of odd-chain TG, while LCHADD showed an up-regulation of ceramide (Cer 41:2;O2). The increase in the Cer class has been found to be associated with neurodegeneration and may contribute to the risk of developing this condition in LCHADD. An upregulation of ether-linked PC lipid species, including plasmenyl (known as endogenous antioxidants), was observed in MCADD, possibly as a response to increased oxidative stress reported in this disorder. Overall, DBS combined with lipidomics effectively pinpoints the lipid plasticity in FAOD, highlighting potential specific biomarkers for disease prognosis that warrant further validation for their association with the development of FAOD comorbidities.eng
dc.description.abstractHighlights: -DBS combined with lipidomics revealed potential biomarkers for FAOD monitoring. -All FAOD showed up-regulation of LPC 16:1 (associated with cardiovascular risk). -Increase in odd-chain PC in LCHADD and VLCADD. -Increase in Cer in LCHADD may contribute to neurodegenerative symptoms. -Possible increase of plasmenyl PC in MCADD suggests a response to oxidative stress.eng
dc.description.sponsorshipFCT/MCTES: financial support to CESAM (UID Centro de Estudos do Ambiente e Mar (CESAM) + LA/P/0094/2020) and LAQV/REQUIMTE (UID/50006 - Laboratório Associado para a Química Verde - Tecnologias e Processos Limpos) through national funds and, where applicable, co-financed by the FEDER, within the PT2020 Partnership Agreement and Compete 2020. Inês M. S. Guerra (2021.04754.BD; doi:10.54499/2021.04754.BD). Tânia Melo thanks the Junior Researcher contract in the scope of the Individual Call to Scientific Employment Stimulus 2020 (CEECIND/01578/2020; doi:10.54499/2020.01578.CEECIND/CP1589/CT0010). The authors are thankful to the COST Action EpiLipidNET, CA19105-Pan-European Network in Lipidomics and EpiLipidomics. The authors acknowledge Molecular Discovery Ltd. for the Lipostar version 2.1.5 license.
dc.identifier.citationBiochim Biophys Acta Mol Cell Biol Lipids. 2025 Jun;1870(5):159621. doi: 10.1016/j.bbalip.2025.159621. Epub 2025 May 1
dc.identifier.doi10.1016/j.bbalip.2025.159621
dc.identifier.issn1388-1981
dc.identifier.pmid40318842
dc.identifier.urihttp://hdl.handle.net/10400.18/10907
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElselvier
dc.relationCentre for Environmental and Marine Studies
dc.relationLipidomics as a tool to decode changes in lipid profile of patients with fatty acid ß–oxidation disorders
dc.relation2021.04754.BD
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S1388198125000290?via%3Dihub
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectLipid Metabolism Disorders
dc.subjectLipids
dc.subjectLiquid Chromatography
dc.subjectMass Spectrometry
dc.subjectMicrosampling
dc.subjectWhole Blood
dc.subjectDoenças Genéticas
dc.titleLipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomicseng
dc.typejournal article
dcterms.referenceshttps://ars.els-cdn.com/content/image/1-s2.0-S1388198125000290-mmc1.pdf
dspace.entity.typePublication
oaire.awardTitleCentre for Environmental and Marine Studies
oaire.awardTitleLipidomics as a tool to decode changes in lipid profile of patients with fatty acid ß–oxidation disorders
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/LA%2FP%2F0094%2F2020/PT
oaire.awardURIhttp://hdl.handle.net/10400.18/10906
oaire.citation.issue5
oaire.citation.startPage159621
oaire.citation.titleBiochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
oaire.citation.volume1870
oaire.fundingStream6817 - DCRRNI ID
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
relation.isProjectOfPublicationbc5e46b5-0da4-4ee2-97e0-bf2ab95a5870
relation.isProjectOfPublicationa334e90d-f259-4373-9133-49a6476f8fdc
relation.isProjectOfPublication.latestForDiscoverybc5e46b5-0da4-4ee2-97e0-bf2ab95a5870

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