Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review
Autor(a) principal: | |
---|---|
Data de Publicação: | 2022 |
Outros Autores: | , , , , , , |
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 |
id |
RCAP_d87d7d2f9e04d8c55985dfbfd2e9034c |
---|---|
oai_identifier_str |
oai:repositorio.insa.pt:10400.18/8528 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
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 |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1817554290169872384 |