Measurement of peroxisomal fatty acid β‐oxidation in cultured human skin fibroblasts
- 1 January 1995
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 18 (S1) , 113-124
- https://doi.org/10.1007/bf00711434
Abstract
One of the main functions of mammalian peroxisomes is the β-oxidation of a variety of fatty acids and fatty acid derivatives, including very long-chain fatty acids. Oxidation of these fatty acids is deficient in a number of different peroxisomal disorders, including the disorders of peroxisome biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease), X-linked adrenoleukodystrophy and a number of other disorders of peroxisomal β-oxidation of known and unknown aetiology. Accurate measurement of peroxisomal fatty acid oxidation is of utmost importance for correct postnatal and prenatal diagnosis of these disorders. In this paper we describe a straightforward and accurate assay method to measure the β-oxidation of palmitic acid (C16:0), hexacosanoic acid (C26:0) and pristanic acid in intact fibroblasts.Keywords
This publication has 65 references indexed in Scilit:
- β-Oxidation of fatty acids in cultured human skin fibroblasts devoid of the capacity for oxidative phosphorylationBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
- Isolated defect of peroxisomal β-oxidation in a 16-year-old patientEuropean Journal of Pediatrics, 1993
- X‐linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defectJournal of Inherited Metabolic Disease, 1992
- Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liverBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1992
- Identification of pristanoyl-CoA oxidase as a distinct, clofibrate non-inducible enzyme in rat liver peroxisomesBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1992
- Conclusive evidence that very-long-chain fatty acids are oxidized exclusively in peroxisomes in human skin fibroblastsBiochemical and Biophysical Research Communications, 1991
- Latency of the peroxisomal enzyme acyl-coA:dihydroxyacetonephosphate acyltransferase in digitonin-permeabilized fibroblasts: the effect of ATP and ATPase inhibitorsBiochemical and Biophysical Research Communications, 1990
- Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acidsBiochemical and Biophysical Research Communications, 1988
- Biochemical abnormalities in rhizomelic chondrodysplasia punctataThe Journal of Pediatrics, 1988
- Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activitiesThe Journal of Pediatrics, 1986