Suzuki Y, Orii T, Mori M, Tatibana M, Hashimoto T
Clin Chim Acta. 1986 Apr 30;156(2):191-6. doi: 10.1016/0009-8981(86)90152-x.
The activities and amounts of enzyme proteins of peroxisomal beta-oxidation in Japanese children with Zellweger syndrome were investigated. Cyanide-insensitive fatty acid oxidation, peroxisomal enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase activities were not detectable in liver tissue at autopsy, whereas the activities of mitochondrial enoyl-CoA hydratase, 3-oxoacyl-CoA thiolase and carnitine palmitoyltransferase were similar to those in the healthy controls. On immunoblot analysis, immunoreactive proteins of peroxisomal acyl-CoA oxidase, bifunctional protein and 3-oxoacyl-CoA thiolase were not detected in the livers, kidneys and fibroblasts from the patients. Proteins of catalase and some enzymes of mitochondrial fatty acid oxidation were similar as in normal controls. These data indicate that increased levels of very-long-chain fatty acids in Zellweger syndrome are due to the lack of the enzyme proteins of peroxisomal beta-oxidation.
对患有泽尔韦格综合征的日本儿童进行了过氧化物酶体β氧化的酶蛋白活性和含量研究。尸检时在肝脏组织中未检测到对氰化物不敏感的脂肪酸氧化、过氧化物酶体烯酰辅酶A水合酶和3-氧代酰基辅酶A硫解酶的活性，而线粒体烯酰辅酶A水合酶、3-氧代酰基辅酶A硫解酶和肉碱棕榈酰转移酶的活性与健康对照相似。免疫印迹分析显示，在患者的肝脏、肾脏和成纤维细胞中未检测到过氧化物酶体酰基辅酶A氧化酶、双功能蛋白和3-氧代酰基辅酶A硫解酶的免疫反应性蛋白。过氧化氢酶和线粒体脂肪酸氧化的一些酶的蛋白与正常对照相似。这些数据表明，泽尔韦格综合征中极长链脂肪酸水平升高是由于缺乏过氧化物酶体β氧化的酶蛋白。
