Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
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人极长链酰基辅酶 A 脱氢酶的纯化及其在 7 名患者中的缺陷的表征。
DOI：
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发表时间：
1995
影响因子：
15.9
通讯作者：
T. Hashimoto
中科院分区：
文献类型：
--
作者：
T. Aoyama;M. Souri;S. Ushikubo;T. Kamijo;S. Yamaguchi;William;J. Rhead;K. Uetake;Kay Tanaka;T. Hashimoto
从人肝脏中纯化出线粒体超长链酰基辅酶A脱氢酶（VLCAD）。据估计，该天然酶和亚基的分子量分别为154和70 kD。该酶在肝脏、心脏、骨骼肌和皮肤成纤维细胞中催化线粒体棕榈酰基辅酶A脱氢的主要部分（分别为89- 97%、86- 99%、96- 99%和78-87%）。使用免疫印迹法分析了26例疑似线粒体β -氧化障碍患者的皮肤成纤维细胞的VLCAD蛋白，其中7例含有检测不到或痕量的酶。采用脉冲追踪法测定了7个缺陷成纤维细胞系的酰基辅酶A脱氢活性、总棕榈酸氧化和VLCAD蛋白合成，进一步证实了VLCAD缺陷的诊断。这些结果表明，导致7例患者缺乏的突变具有异质性。临床上，所有VLCAD缺乏症患者均表现为心脏疾病。其中至少4人表现为肥厚性心肌病。这一频率（> 57%）远高于其他可能伴有婴儿心脏病的线粒体长链脂肪酸氧化障碍患者。
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) was purified from human liver. The molecular masses of the native enzyme and the subunit were estimated to be 154 and 70 kD, respectively. The enzyme was found to catalyze the major part of mitochondrial palmitoylcoenzyme A dehydrogenation in liver, heart, skeletal muscle, and skin fibroblasts (89-97, 86-99, 96-99, and 78-87%, respectively). Skin fibroblasts from 26 patients suspected of having a disorder of mitochondrial beta-oxidation were analyzed for VLCAD protein using immunoblotting, and 7 of them contained undetectable or trace levels of the enzyme. The seven deficient fibroblast lines were characterized by measuring acyl-coenzyme A dehydrogenation activities, overall palmitic acid oxidation, and VLCAD protein synthesis using pulse-chase, further confirming the diagnosis of VLCAD deficiency. These results suggested the heterogenous nature of the mutations causing the deficiency in the seven patients. Clinically, all patients with VLCAD deficiency exhibited cardiac disease. At least four of them presented with hypertrophic cardiomyopathy. This frequency (> 57%) was much higher than that observed in patients with other disorders of mitochondrial long-chain fatty acid oxidation that may be accompanied by cardiac disease in infants.
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人类脂肪酸氧化的先天性错误。
影响因子：
2.8
作者：
Rhead,WJ
通讯作者：
Rhead,WJ
大鼠肝线粒体中五种不同酰基辅酶A脱氢酶的分离和性质。
DOI：
--
发表时间：
1983
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Ikeda,Y;Dabrowski,C;Tanaka,K
通讯作者：
Tanaka,K
DOI：
10.1056/nejm198811173192006
发表时间：
1988-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
W. Treem;C. Stanley;D. Finegold;Daniel Hale;P. Coates
通讯作者：
W. Treem;C. Stanley;D. Finegold;Daniel Hale;P. Coates
脂肪酸氧化缺陷：患者的实验室和病理结果。
影响因子：
3.8
作者：
Tonsgard,JH;Stephens,JK;Rhead,WJ;Penn,D;Horwitz,AL;Kirschner,BS;Whitington,PF;Berger,S;Tripp,ME
通讯作者：
Tripp,ME
线粒体脂肪酸氧化缺陷的分子基础。
影响因子：
6.5
作者：
Coates,PM;Tanaka,K
通讯作者：
Tanaka,K