Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.
Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.
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DOI：
10.1016/j.cca.2013.06.027
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发表时间：
2013-10-21
期刊：
影响因子：
--
通讯作者：
Ledvinová J
中科院分区：
文献类型：
--
作者：
Kuchař L;Asfaw B;Poupětová H;Honzíková J;Tureček F;Ledvinová J
疑似异色性脑白质营养不良（MLD）的预诊断步骤依赖于临床化学方法而不是酶测定。我们报告了一种新的诊断方法，该方法评估了MLD尿液中硫脂（3- o -磺半乳糖神经酰胺）分子类型的变化。该程序允许在deae -纤维素膜上固相萃取分离尿硫脂，运输干燥膜，然后在临床实验室进行洗脱和串联质谱（MS/MS）分析。主要的硫脂异构体归一化到光谱中变化最小的组分，即原生的C18:0异构体。本程序不需要使用特定的内部标准，并最大限度地减少样品制备和测量引起的误差。对来自磺胺中毒患者的一组21个样本的尿硫脂进行了分析。研究发现，C22:0、C22:0- oh、C24:0、C24:1-OH和C24:0- oh这五种最高的亚型的总丰度是mld患者和对照组之间最大的区别。该方法避免了液体尿液样品的运输，并产生稳定的膜结合硫脂样品，可在环境温度下储存。针对大多数mld代表性异构体的质谱/质谱分析简单，结果可靠，适合筛选。
Prediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely onclinical chemical methods other than enzyme assays. We report a new diagnostic method which evaluates changes in the spectrum of molecular types of sulfatides (3-O-sulfogalactosyl ceramides) in MLD urine. The procedure allows isolation of urinary sulfatides by solid-phase extraction on DEAE-cellulose membranes, transportation of a dry membrane followed by elution and tandem mass spectrometry (MS/MS) analysis in the clinical laboratory. Major sulfatide isoforms are normalized to the least variable component of the spectrum, which is the indigenous C18:0 isoform. This procedure does not require the use of specific internal standards and minimizes errors caused by sample preparation and measurement. Urinary sulfatides were analyzed in a set of 21 samples from patients affected by sulfatidosis. The combined abundance of the five most elevated isoforms, C22:0, C22:0-OH, C24:0, C24:1-OH, and C24:0-OH sulfatides, was found to give the greatest distinction between MLD-affected patients and a control group. The method avoids transportation of liquid urine samples and generates stable membrane-bound sulfatide samples that can be stored at ambient temperature. MS/MS sulfatide profiling targeted on the most MLD-representative isoforms is simple with robust results and is suitable for screening.
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影响因子：
4.6
作者：
Levy, Michal;Futerman, Anthony H.
通讯作者：
Futerman, Anthony H.
DOI：
10.1073/pnas.86.23.9436
发表时间：
1989-12-01
影响因子：
11.1
作者：
GIESELMANN, V;POLTEN, A;VONFIGURA, K
通讯作者：
VONFIGURA, K
影响因子：
12.4
作者：
Matzner, Ulrich;Luellmann-Rauch, Renate;Gieselmann, Volkmar
通讯作者：
Gieselmann, Volkmar
影响因子：
5
作者：
CHRISTOMANOU, H;SANDHOFF, K
通讯作者：
SANDHOFF, K
影响因子：
5.3
作者：
HERZ, B;BACH, G
通讯作者：
BACH, G