How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
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DOI：
10.1016/j.cca.2010.07.038
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发表时间：
2010-12-14
影响因子：
5
通讯作者：
Gagnon, Rene
中科院分区：
文献类型：
--
作者：
Auray-Blais, Christiane;Ntwari, Aime;Gagnon, Rene
背景：法布里病的特点是鞘糖脂积聚，如globotriaosyl神经酰胺（Gb(3)），在许多组织和体液中。一种新的血浆生物标志物，globotriaosylsphingosin （lyso-Gb(3)）在该疾病患者中升高。到目前为止，在尿液中检测不到lyso-Gb(3)，可能是因为存在干扰化合物。方法：1)测定尿中溶索- gb (3)；2)建立质谱法定量测定尿溶酶- gb(3)的方法；3)评价尿溶酶- gb(3)作为法布里病的潜在生物标志物；4)确定lyso-Gb3是否为A -半乳糖苷酶A活性的抑制剂。我们分析了83名Fabry患者和77名年龄匹配的健康对照者的尿溶酶- gb(3)。结果：方法日内、日间偏差及精密度均为
Background: Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids. A novel plasma biomarker, globotriaosylsphingosine (lyso-Gb(3)), is increased in patients with the disease. Until now, lyso-Gb(3) was not detectable in urine, possibly because of the presence of interfering compounds.Methods: We undertook to: 1) characterize lyso-Gb(3) in urine; 2) develop a method to quantitate urinary lyso-Gb(3) by mass spectrometry; 3) evaluate urinary lyso-Gb(3) as a potential biomarker for Fabry disease; and 4) determine whether lyso-Gb3 is an inhibitor of a-galactosidase A activity. We analyzed urinary lyso-Gb(3) from 83 Fabry patients and 77 healthy age-matched controls.Results: The intraday and interday bias and precision of the method were