MEASUREMENT OF PEROXISOMAL FATTY-ACID BETA-OXIDATION IN CULTURED HUMAN SKIN FIBROBLASTS

One of the main functions of mammalian peroxisomes is the beta-oxidati on of a variety of fatty acids and fatty acid derivatives, including v ery long-chain fatty acids. Oxidation of these fatty acids is deficien t in a number of different peroxisomal disorders, including the disord ers of peroxisome biogenesis (Zellweger syndrome, neonatal adrenoleuko dystrophy and infantile Refsum disease), X-linked adrenoleukodystrophy and a number of other disorders of peroxisomal beta-oxidation of know n and unknown aetiology. Accurate measurement of peroxisomal fatty aci d oxidation is of utmost importance for correct postnatal and prenatal diagnosis of these disorders. In this paper we describe a straightfor ward and accurate assay method to measure the beta-oxidation of palmit ic acid (C-16:0), hexacosanoic acid (C-26:0) and pristanic acid in int act fibroblasts.