Mitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studies—a critical review
Autor(a) principal: | |
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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/10400.22/22142 |
Resumo: | 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 |
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Mitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studies—a critical reviewInborn errors of metabolismFAODMCADDLCHADDVLCADDCPT2DLipid changesOxidative stressLipidomicsMass spectrometryFatty 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 efficacyMDPIRepositório Científico do Instituto Politécnico do PortoGuerra, Inês M. S.Ferreira, Helena B.Melo, TâniaRocha, HugoMoreira, SóniaDiogo, LuísaDomingues, Maria RosárioMoreira, Ana S. P.2023-02-03T13:31:31Z2022-11-112022-11-11T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.22/22142engGuerra, I. M. S., Ferreira, H. B., Melo, T., Rocha, H., Moreira, S., Diogo, L., Domingues, M. R., & Moreira, A. S. P. (2022). Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review. International Journal of Molecular Sciences, 23(22), 13933. https://www.mdpi.com/1422-0067/23/22/1393310.3390/ijms2322139331422-0067info: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:RCAAP2023-03-13T13:18:43Zoai:recipp.ipp.pt:10400.22/22142Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:42:12.255889Repositório 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. Inborn errors of metabolism FAOD MCADD LCHADD VLCADD CPT2D Lipid changes Oxidative stress Lipidomics Mass spectrometry |
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 Politécnico do Porto |
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 |
Inborn errors of metabolism FAOD MCADD LCHADD VLCADD CPT2D Lipid changes Oxidative stress Lipidomics Mass spectrometry |
topic |
Inborn errors of metabolism FAOD MCADD LCHADD VLCADD CPT2D Lipid changes Oxidative stress Lipidomics Mass spectrometry |
description |
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 |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-11-11 2022-11-11T00:00:00Z 2023-02-03T13:31:31Z |
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/10400.22/22142 |
url |
http://hdl.handle.net/10400.22/22142 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Guerra, I. M. S., Ferreira, H. B., Melo, T., Rocha, H., Moreira, S., Diogo, L., Domingues, M. R., & Moreira, A. S. P. (2022). Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review. International Journal of Molecular Sciences, 23(22), 13933. https://www.mdpi.com/1422-0067/23/22/13933 10.3390/ijms232213933 1422-0067 |
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.publisher.none.fl_str_mv |
MDPI |
publisher.none.fl_str_mv |
MDPI |
dc.source.none.fl_str_mv |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1817552659332202496 |