Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.
Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.
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通过测量培养的绒毛膜绒毛成纤维细胞中的长链脂肪酸 (C26:0) β-氧化来产前诊断 Zellweger 综合征：对其他过氧化物酶体疾病早期诊断的影响。
DOI：
10.1016/0009-8981(87)90175-6
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
A. Tromp
中科院分区：
文献类型：
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作者：
R. Wanders;M. van Wijland;C. V. van Roermund;R. Schutgens;H. Van den bosch;J. Tager;A. Nijenhuis;A. Tromp
在本文中，我们表明培养的绒毛膜成纤维细胞有效地催化过氧酶体β-氧化的二十六烷酸（蜡酸），饱和的非常长的链脂肪酸含有26个碳原子。在Zellweger胎儿培养的绒毛膜绒毛成纤维细胞中发现二十六烷酸β-氧化严重受损。这一发现表明，过氧化物酶体β-氧化的测量（除了测量酰基辅酶A：磷酸二羟丙酮酰基转移酶、新生缩醛磷脂合成、颗粒结合过氧化氢酶和植烷酸氧化酶的量）可用于妊娠早期齐薇格综合征、婴儿雷夫苏姆病和新生儿肾上腺脑白质营养不良的产前诊断。该方法同样适用于缺乏单一过氧化物酶体β-氧化酶的疾病的早期产前诊断。此类疾病包括X-连锁肾上腺脑白质营养不良（过氧化物酶体极长链脂肪酰基CoA连接酶缺乏症）、“假齐薇格综合征”（过氧化物酶体3-氧代酰基-CoA硫解酶缺乏症）和“假新生儿肾上腺脑白质营养不良”（酰基-CoA氧化酶缺乏症）。
In this paper we show that cultured chorionic villous fibroblasts efficiently catalyse the peroxisomal β-oxidation of hexacosanoic acid (cerotic acid), a saturated very long chain fatty acid containing 26 carbon atoms. Hexacosanoic β-oxidation was found to be strongly impaired in cultured chorionic villous fibroblasts from a Zellweger foetus. This finding indicates that measurement of peroxisomal β-oxidation can be used (in addition to measurement of acyl-CoA : dihydroxyacetone phosphate acyltransferase, de novo plasmalogen biosynthesis, the amount of particle-bound catalase and phytanic acid oxidase) for prenatal diagnosis in the first trimester of Zellweger syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy. The method should be equally applicable to the early prenatal diagnosis of disorders in which there is a deficiency of a single peroxisomal β-oxidation enzyme. Such diseases include X-linked adrenoleukodystrophy (peroxisomal very long chain fatty acyl CoA ligase deficiency), ‘ pseudo-Zellweger syndrome’ (peroxisomal 3-oxoacyl-CoA thiolase deficiency) and ‘pseudo-neonatal adrenoleukodystrophy’ (acyl-CoA oxidase deficiency).