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Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
- Source :
-
Cells [Cells] 2021 May 18; Vol. 10 (5). Date of Electronic Publication: 2021 May 18. - Publication Year :
- 2021
-
Abstract
- Long-chain fatty acid oxidation disorders (lc-FAOD) are a group of diseases affecting the degradation of long-chain fatty acids. In order to investigate the disease specific alterations of the cellular lipidome, we performed undirected lipidomics in fibroblasts from patients with carnitine palmitoyltransferase II, very long-chain acyl-CoA dehydrogenase, and long-chain 3-hydroxyacyl-CoA dehydrogenase. We demonstrate a deep remodeling of mitochondrial cardiolipins. The aberrant phosphatidylcholine/phosphatidylethanolamine ratio and the increased content of plasmalogens and of lysophospholipids support the theory of an inflammatory phenotype in lc-FAOD. Moreover, we describe increased ratios of sphingomyelin/ceramide and sphingomyelin/hexosylceramide in LCHAD deficiency which may contribute to the neuropathic phenotype of LCHADD/mitochondrial trifunctional protein deficiency.
- Subjects :
- Acyl-CoA Dehydrogenase, Long-Chain deficiency
Acyl-CoA Dehydrogenase, Long-Chain genetics
Cardiolipins metabolism
Carnitine O-Palmitoyltransferase deficiency
Carnitine O-Palmitoyltransferase genetics
Case-Control Studies
Cells, Cultured
Ceramides metabolism
Female
Humans
Lipid Metabolism, Inborn Errors genetics
Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase deficiency
Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase genetics
Male
Metabolism, Inborn Errors enzymology
Metabolism, Inborn Errors genetics
Oxidation-Reduction
Sphingolipids metabolism
Tandem Mass Spectrometry
Fatty Acids metabolism
Fibroblasts enzymology
Lipid Metabolism, Inborn Errors enzymology
Lipidomics
Metabolome
Skin enzymology
Subjects
Details
- Language :
- English
- ISSN :
- 2073-4409
- Volume :
- 10
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Cells
- Publication Type :
- Academic Journal
- Accession number :
- 34069977
- Full Text :
- https://doi.org/10.3390/cells10051239