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

2025-06Artigo de investigação Acesso aberto
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dc.contributor.authorGuerra, Inês M. S.
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.authorChaves, Paulo Castro
dc.contributor.authorMelo, Tânia
dc.contributor.authorGoracci, Laura
dc.contributor.authorDomingues, Pedro
dc.contributor.authorMoreira, Ana S.P.
dc.contributor.authorDomingues, M. Rosário
dc.contributor.authorCarvalho de Azevedo Rocha, Hugo Daniel
dc.date.accessioned2026-01-14T11:53:26Z
dc.date.available2026-01-14T11:53:26Z
dc.date.issued2025-06
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.identifier.citationGuerra, I. M. S., Rocha, H., Moreira, S., Gaspar, A., Ferreira, A. C., Santos, H., Rodrigues, E., Castro-Chaves, P., Melo, T., Goracci, L., Domingues, P., Moreira, A. S. P., & Domingues, M. R. (2025). Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 1870(5), 159621. https://doi.org/10.1016/j.bbalip.2025.159621
dc.identifier.doi10.1016/j.bbalip.2025.159621
dc.identifier.eissn1879-2618
dc.identifier.issn1388-1981
dc.identifier.urihttp://hdl.handle.net/10400.22/31512
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S1388198125000290?via%3Dihub
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectLipid metabolism disorders
dc.subjectLipids
dc.subjectMicrosampling
dc.subjectWhole blood
dc.subjectLiquid chromatography
dc.subjectMass spectrometry
dc.titleLipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomicseng
dc.typeresearch article
dspace.entity.typePublication
oaire.citation.issue5
oaire.citation.titleBiochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
oaire.citation.volume1870
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameCarvalho de Azevedo Rocha
person.givenNameHugo Daniel
person.identifier.ciencia-id331F-6236-B34F
person.identifier.orcid0000-0001-5447-615X
relation.isAuthorOfPublicationa67d8ec6-bfd4-415f-9615-8d8c8a48166e
relation.isAuthorOfPublication.latestForDiscoverya67d8ec6-bfd4-415f-9615-8d8c8a48166e

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