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| Formato: | Artículo científico |
| Lenguaje: | en |
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Biochimica et biophysica acta. Molecular and cell biology of lipids
2025
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| Acceso en línea: | https://pubmed.ncbi.nlm.nih.gov/40318842/ |
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| author | Guerra, Inês M S Rocha, Hugo Moreira, Sónia Gaspar, Ana Ferreira, Ana C Santos, Helena Rodrigues, Esmeralda Castro-Chaves, Paulo Melo, Tânia Goracci, Laura Domingues, Pedro Moreira, Ana S P Domingues, M Rosário |
| author_facet | Guerra, Inês M S Rocha, Hugo Moreira, Sónia Gaspar, Ana Ferreira, Ana C Santos, Helena Rodrigues, Esmeralda Castro-Chaves, Paulo Melo, Tânia Goracci, Laura Domingues, Pedro Moreira, Ana S P Domingues, M Rosário Guerra, Inês M S Rocha, Hugo Moreira, Sónia Gaspar, Ana Ferreira, Ana C Santos, Helena Rodrigues, Esmeralda Castro-Chaves, Paulo Melo, Tânia Goracci, Laura Domingues, Pedro Moreira, Ana S P Domingues, M Rosário |
| collection | PubMed - marine biology |
| contents | Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics. Guerra, Inês M S Rocha, Hugo Moreira, Sónia Gaspar, Ana Ferreira, Ana C Santos, Helena Rodrigues, Esmeralda Castro-Chaves, Paulo Melo, Tânia Goracci, Laura Domingues, Pedro Moreira, Ana S P Domingues, M Rosário Humans Lipidomics Lipid Metabolism, Inborn Errors Dried Blood Spot Testing Acyl-CoA Dehydrogenase, Long-Chain Male Fatty Acids Oxidation-Reduction Female Adult Biomarkers Carnitine Mitochondrial Diseases Muscular Diseases Congenital Bone Marrow Failure Syndromes Acyl-CoA Dehydrogenase Lipid Metabolism Rhabdomyolysis Lipids Young Adult Fatty 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. |
| format | Artículo científico |
| id | pubmed_40318842 |
| institution | PubMed |
| language | en |
| publishDate | 2025 |
| publisher | Biochimica et biophysica acta. Molecular and cell biology of lipids |
| record_format | pubmed |
| spellingShingle | Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics. Guerra, Inês M S Rocha, Hugo Moreira, Sónia Gaspar, Ana Ferreira, Ana C Santos, Helena Rodrigues, Esmeralda Castro-Chaves, Paulo Melo, Tânia Goracci, Laura Domingues, Pedro Moreira, Ana S P Domingues, M Rosário Humans Lipidomics Lipid Metabolism, Inborn Errors Dried Blood Spot Testing Acyl-CoA Dehydrogenase, Long-Chain Male Fatty Acids Oxidation-Reduction Female Adult Biomarkers Carnitine Mitochondrial Diseases Muscular Diseases Congenital Bone Marrow Failure Syndromes Acyl-CoA Dehydrogenase Lipid Metabolism Rhabdomyolysis Lipids Young Adult Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics. Guerra, Inês M S Rocha, Hugo Moreira, Sónia Gaspar, Ana Ferreira, Ana C Santos, Helena Rodrigues, Esmeralda Castro-Chaves, Paulo Melo, Tânia Goracci, Laura Domingues, Pedro Moreira, Ana S P Domingues, M Rosário Humans Lipidomics Lipid Metabolism, Inborn Errors Dried Blood Spot Testing Acyl-CoA Dehydrogenase, Long-Chain Male Fatty Acids Oxidation-Reduction Female Adult Biomarkers Carnitine Mitochondrial Diseases Muscular Diseases Congenital Bone Marrow Failure Syndromes Acyl-CoA Dehydrogenase Lipid Metabolism Rhabdomyolysis Lipids Young Adult Fatty 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. |
| title | Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics. |
| topic | Humans Lipidomics Lipid Metabolism, Inborn Errors Dried Blood Spot Testing Acyl-CoA Dehydrogenase, Long-Chain Male Fatty Acids Oxidation-Reduction Female Adult Biomarkers Carnitine Mitochondrial Diseases Muscular Diseases Congenital Bone Marrow Failure Syndromes Acyl-CoA Dehydrogenase Lipid Metabolism Rhabdomyolysis Lipids Young Adult |
| url | https://pubmed.ncbi.nlm.nih.gov/40318842/ |