Wanders R J, van Roermund C W, van Wijland M J, Heikoop J, Schutgens R B, Schram A W, Tager J M, van den Bosch H, Poll-Thé B T, Saudubray J M
Clin Chim Acta. 1987 Jul 15;166(2-3):255-63. doi: 10.1016/0009-8981(87)90428-1.
Since very long-chain fatty acids with a chain length of 24 carbons or more are known to accumulate in tissues and body fluids from patients with the cerebrohepato-renal (Zellweger) syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and X-linked adrenoleukodystrophy, we studied very long-chain fatty acid oxidation in cultured skin fibroblasts from these patients. In this paper, we report that in accordance with earlier results the first step in the beta-oxidation of the very long-chain fatty acid lignoceric acid (C24:0) primarily occurs in peroxisomes in control human skin fibroblasts. Furthermore, it was found that peroxisomal lignoceric acid beta-oxidation was strongly deficient in fibroblasts from patients with Zellweger syndrome, infantile Refsum disease, neonatal and X-linked adrenoleukodystrophy, which explains for the accumulation of very long-chain fatty acids in all four disease entities. In Zellweger syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy the impairment in peroxisomal very long-chain fatty acid beta-oxidation is probably caused by a strong deficiency of all peroxisomal beta-oxidation enzyme proteins due to a deficiency of peroxisomes.
由于已知链长为24个碳原子或更长的极长链脂肪酸会在脑肝肾（泽尔韦格）综合征、婴儿型雷夫叙姆病、新生儿肾上腺脑白质营养不良和X连锁肾上腺脑白质营养不良患者的组织和体液中蓄积，我们研究了这些患者培养的皮肤成纤维细胞中的极长链脂肪酸氧化。在本文中，我们报告，与早期结果一致，极长链脂肪酸二十四烷酸（C24:0）的β-氧化第一步主要发生在对照人皮肤成纤维细胞的过氧化物酶体中。此外，还发现泽尔韦格综合征、婴儿型雷夫叙姆病、新生儿和X连锁肾上腺脑白质营养不良患者的成纤维细胞中过氧化物酶体二十四烷酸β-氧化严重缺乏，这解释了在所有这四种疾病中极长链脂肪酸的蓄积。在泽尔韦格综合征、婴儿型雷夫叙姆病和新生儿肾上腺脑白质营养不良中，过氧化物酶体极长链脂肪酸β-氧化的损害可能是由于过氧化物酶体缺乏导致所有过氧化物酶体β-氧化酶蛋白严重缺乏所致。
