对泽尔韦格综合征和X连锁肾上腺脑白质营养不良患者成纤维细胞中脂肪酸氧化的免疫化学和生物化学研究。

Immunochemical and biochemical studies of fatty acid oxidation in fibroblasts of Zellweger and X-linked adrenoleukodystrophy patients.

作者信息

Reubsaet F A, Veerkamp J H, Brückwilder M L, Trijbels J M, Hashimoto T, Monnens L A

机构信息

Department of Pediatrics, University of Nijmegen, The Netherlands.

出版信息

Biochim Biophys Acta. 1991 Jun 3;1083(3):305-9. doi: 10.1016/0005-2760(91)90087-x.

DOI:10.1016/0005-2760(91)90087-x

PMID:2049396

Abstract

Immunoblot analyses of peroxisomal beta-oxidation enzymes showed that subunit A of acyl-CoA oxidase gave a stronger immunoreaction in fibroblasts of Zellweger and X-linked adrenoleukodystrophy patients than in those of controls. Subunits B and C and 3-ketoacyl-CoA thiolase were detected in fibroblasts of controls and X-linked adrenoleukodystrophy patients, but not of Zellweger patients. Total oxidation of palmitic and lignoceric acid was normal in homogenates of fibroblasts from Zellweger and X-linked adrenoleukodystrophy patients. The peroxisomal oxidation of both acids was only deficient in Zellweger patients. These data may not reflect the situation in vivo, as is evident from the accumulation of very-long-chain fatty acids in Zellweger and X-linked adrenoleukodystrophy patients.

摘要

过氧化物酶体β-氧化酶的免疫印迹分析表明，与对照组相比，在泽尔韦格综合征和X连锁肾上腺脑白质营养不良患者的成纤维细胞中，酰基辅酶A氧化酶的A亚基产生更强的免疫反应。在对照组和X连锁肾上腺脑白质营养不良患者的成纤维细胞中检测到B和C亚基以及3-酮酰基辅酶A硫解酶，但在泽尔韦格综合征患者的成纤维细胞中未检测到。泽尔韦格综合征和X连锁肾上腺脑白质营养不良患者的成纤维细胞匀浆中棕榈酸和木蜡酸的总氧化正常。两种酸的过氧化物酶体氧化仅在泽尔韦格综合征患者中缺乏。这些数据可能无法反映体内的情况，从泽尔韦格综合征和X连锁肾上腺脑白质营养不良患者中极长链脂肪酸的积累可以明显看出这一点。