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线粒体β氧化缺陷患者成纤维细胞与(16-²H₃)棕榈酸孵育后有机酸的分析

Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects.

作者信息

Osorio J H, Lluch M, Ribes A

机构信息

Institut Bioquímica Clínica, Corporació Sanitària Clínic, 08028 Barcelona, Spain.

出版信息

J Inherit Metab Dis. 2003;26(8):795-803. doi: 10.1023/B:BOLI.0000009951.13315.66.

DOI:10.1023/B:BOLI.0000009951.13315.66
PMID:14739684
Abstract

The analysis of acylcarnitines as products of incubation of intact fibroblasts with isotope-labelled precursors, usually (16-(2)H(3))hexadecanoic acid, is an advanced in vitro method for the study of mitochondrial beta-oxidation defects. We propose a technique for the measurement of the organic acid intermediates after hydrolysis of the acylcarnitines using electron-impact gas chromatography-mass spectrometry. For some mitochondrial beta-oxidation deficiencies, the characteristic profile enables us to approach the diagnosis with clear differentiation.

摘要

将完整的成纤维细胞与同位素标记的前体（通常是(16-(2)H(3))十六烷酸）一起孵育，对生成的酰基肉碱进行分析，是一种用于研究线粒体β氧化缺陷的先进体外方法。我们提出了一种利用电子轰击气相色谱-质谱法测量酰基肉碱水解后有机酸中间体的技术。对于某些线粒体β氧化缺陷，其特征图谱使我们能够明确区分并进行诊断。

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J Inherit Metab Dis. 2003;26(8):795-803. doi: 10.1023/B:BOLI.0000009951.13315.66.
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本文引用的文献

1
Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.线粒体脂肪酸β氧化缺陷中的定量成纤维细胞酰基肉碱谱：表型/代谢物相关性
Mol Genet Metab. 2002 Aug;76(4):327-34. doi: 10.1016/s1096-7192(02)00112-9.
2
Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle.通过串联质谱法对从培养的成纤维细胞、骨骼肌细胞匀浆以及新鲜肌肉制备的完整线粒体中的线粒体脂肪酸氧化中间体进行分析。
Pediatr Res. 2002 Jul;52(1):64-70. doi: 10.1203/00006450-200207000-00013.
3
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.
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Clin Chim Acta. 2001 Oct;312(1-2):55-67. doi: 10.1016/s0009-8981(01)00594-0.
4
The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts.使用[9,10-³H]肉豆蔻酸、[9,10-³H]棕榈酸和[9,10-³H]油酸检测和诊断完整培养成纤维细胞中的中长链脂肪酸氧化障碍。
Adv Exp Med Biol. 1999;466:321-5. doi: 10.1007/0-306-46818-2_37.
5
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.长链3-羟基酰基辅酶A脱氢酶缺乏症及其他脂肪酸氧化障碍患者成纤维细胞中的酰基肉碱
J Inherit Metab Dis. 2000 Feb;23(1):27-44. doi: 10.1023/a:1005694712583.
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Recent developments in the investigation of inherited metabolic disorders using cultured human cells.利用培养的人类细胞对遗传性代谢紊乱进行研究的最新进展。
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7
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10
Prenatal diagnosis of mitochondrial fatty acid oxidation defects.线粒体脂肪酸氧化缺陷的产前诊断
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