Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review

Detalhes bibliográficos
Autor(a) principal: Guerra, Inês M.S.
Data de Publicação: 2022
Outros Autores: Ferreira, Helena B., Melo, Tânia, Rocha, Hugo, Moreira, Sónia, Diogo, Luísa, Domingues, Maria Rosário, Moreira, Ana S.P.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8528
Resumo: Review
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spelling Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical ReviewCPT2DFAODLCHADDMCADDVLCADDInborn Errors of MetabolismLipid ChangesLipidomicsMass SpectrometryOxidative StressDoenças GenéticasReviewThis article belongs to the Special Issue Lipid Metabolism in Pathology and Health.Fatty 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.This 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.Repositório Científico do Instituto Nacional de SaúdeGuerra, Inês M.S.Ferreira, Helena B.Melo, TâniaRocha, HugoMoreira, SóniaDiogo, LuísaDomingues, Maria RosárioMoreira, Ana S.P.2023-02-27T15:52:09Z2022-11-112022-11-11T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8528engInt J Mol Sci. 2022 Nov 11;23(22):13933. doi: 10.3390/ijms232213933. Review1661-659610.3390/ijms232213933info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:37Zoai:repositorio.insa.pt:10400.18/8528Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:43:10.296695Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
title Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
spellingShingle Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
Guerra, Inês M.S.
CPT2D
FAOD
LCHADD
MCADD
VLCADD
Inborn Errors of Metabolism
Lipid Changes
Lipidomics
Mass Spectrometry
Oxidative Stress
Doenças Genéticas
title_short Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
title_full Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
title_fullStr Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
title_full_unstemmed Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
title_sort Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
author Guerra, Inês M.S.
author_facet Guerra, Inês M.S.
Ferreira, Helena B.
Melo, Tânia
Rocha, Hugo
Moreira, Sónia
Diogo, Luísa
Domingues, Maria Rosário
Moreira, Ana S.P.
author_role author
author2 Ferreira, Helena B.
Melo, Tânia
Rocha, Hugo
Moreira, Sónia
Diogo, Luísa
Domingues, Maria Rosário
Moreira, Ana S.P.
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Guerra, Inês M.S.
Ferreira, Helena B.
Melo, Tânia
Rocha, Hugo
Moreira, Sónia
Diogo, Luísa
Domingues, Maria Rosário
Moreira, Ana S.P.
dc.subject.por.fl_str_mv CPT2D
FAOD
LCHADD
MCADD
VLCADD
Inborn Errors of Metabolism
Lipid Changes
Lipidomics
Mass Spectrometry
Oxidative Stress
Doenças Genéticas
topic CPT2D
FAOD
LCHADD
MCADD
VLCADD
Inborn Errors of Metabolism
Lipid Changes
Lipidomics
Mass Spectrometry
Oxidative Stress
Doenças Genéticas
description Review
publishDate 2022
dc.date.none.fl_str_mv 2022-11-11
2022-11-11T00:00:00Z
2023-02-27T15:52:09Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8528
url http://hdl.handle.net/10400.18/8528
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Mol Sci. 2022 Nov 11;23(22):13933. doi: 10.3390/ijms232213933. Review
1661-6596
10.3390/ijms232213933
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
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