title: Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.
abstract: One of the main functions of mammalian peroxisomes is the beta-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 beta-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 beta-oxidation of palmitic acid (C16:0), hexacosanoic acid (C26:0) and pristanic acid in intact fibroblasts.
authors.affiliation: University Hospital Amsterdam, Department of Pediatrics, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: S
authors.initials: S
authors.lastname: Denis
authors.forename: J P
authors.initials: JP
authors.lastname: Ruiter
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: C W
authors.initials: CW
authors.lastname: van Roermund
authors.forename: B S
authors.initials: BS
authors.lastname: Jacobs
mesh_terms: D002448:Cell Adhesion; D002478:Cells, Cultured; D005227:Fatty Acids / Q000737:chemistry* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007202:Indicators and Reagents; D008830:Microbodies / Q000737:chemistry*; D010084:Oxidation-Reduction; D010169:Palmitic Acids / Q000378:metabolism; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000032:analysis / Q000378:metabolism; D012867:Skin / Q000166:cytology / Q000378:metabolism*
chemical_list: D005227:Fatty Acids; D007202:Indicators and Reagents; D010169:Palmitic Acids; D011506:Proteins; C002844:pristanic acid