The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry
The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry
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DOI：
10.1016/s0925-4439(02)00156-4
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发表时间：
2002-11-20
影响因子：
6.2
通讯作者：
Yoshioka, M
中科院分区：
文献类型：
--
作者：
Kishikawa, M;Sass, JO;Yoshioka, M
钼辅因子缺乏症是一种致命的神经系统疾病，具有常染色体隐性遗传特征，其特征是酶、亚硫酸氧化酶、黄嘌呤脱氢酶和醛氧化酶的联合缺乏。早期发现钼辅因子缺乏症患者对于他们的适当护理和高危家庭的遗传咨询至关重要。我们证明了使用 S-磺化甲状腺素运载蛋白 (TTR) 作为钼辅因子缺乏的标志物。使用蛋白 G/A 琼脂糖通过免疫沉淀选择性富集 TTR，然后通过电喷雾电离质谱 (ESIMS) 对取自 4 名钼辅因子缺乏症患者和 57 名对照者的血浆或血清进行研究。从钼辅助因子缺乏样品中获得的数据表明，S-磺化 TTR 的峰高显着增加。如果测定S-磺化TTR与其他氧化TTR的总和的峰高比，则显示更显着的差异。通过准确测定该比率，可以清楚地区分钼辅因子缺乏症患者的样本与未缺乏钼辅因子缺乏症的对照样本。 (C) 2002 Elsevier Science B.V. 保留所有权利。
Molybdenum cofactor deficiency is a fatal neurological disorder, which follows an autosomal-recessive trait and is characterized by combined deficiency of the enzyme, sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Early detection of molybdenum cofactor-deficient patients is essential for their proper care and genetic counseling of families at risk. We demonstrate the use of S-sulfonated transthyretin (TTR) as a marker for molybdenum cofactor deficiency. Plasma or sera obtained from 4 patients with molybdenum cofactor deficiency and 57 controls were studied by electrospray ionization mass spectrometry (ESIMS) following selective enrichment of TTR by immunoprecipitation using protein G/A agarose. The data obtained from molybdenum cofactor deficiency samples indicated a strong increase in the peak height of S-sulfonated TTR. A more significant difference was revealed if the peak height ratio of S-sulfonated TTR and the sum of the other oxidized TTR were determined. By accurate determination of the ratio, the samples of molybdenum cofactor deficiency patients could clearly be distinguished from controls without molybdenum cofactor deficiency. (C) 2002 Elsevier Science B.V. All rights reserved.