Wanders R J, Denis S, Ruiter J P, Schutgens R B, van Roermund C W, Jacobs B S
University Hospital Amsterdam, Department of Pediatrics, The Netherlands.
J Inherit Metab Dis. 1995;18 Suppl 1:113-24. doi: 10.1007/BF00711434.
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.
哺乳动物过氧化物酶体的主要功能之一是对多种脂肪酸和脂肪酸衍生物进行β-氧化，包括极长链脂肪酸。在许多不同的过氧化物酶体疾病中，这些脂肪酸的氧化存在缺陷，包括过氧化物酶体生物发生障碍（泽尔韦格综合征、新生儿肾上腺脑白质营养不良和婴儿型雷夫叙姆病）、X连锁肾上腺脑白质营养不良以及其他一些病因已知和未知的过氧化物酶体β-氧化障碍。准确测量过氧化物酶体脂肪酸氧化对于这些疾病的正确产后和产前诊断至关重要。在本文中，我们描述了一种直接且准确的检测方法，用于测量完整成纤维细胞中棕榈酸（C16:0）、二十六烷酸（C26:0）和降植烷酸的β-氧化。
