使用电喷雾电离质谱法对舍格伦-拉松综合征进行酶促诊断。
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
作者信息
Sanders Robert-Jan, Ofman Rob, Dekker Conny, Kemp Stephan, Wanders Ronald J A
机构信息
Department of Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
出版信息
J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Feb 1;877(4):451-5. doi: 10.1016/j.jchromb.2008.12.040. Epub 2008 Dec 25.
BACKGROUND
Sjögren-Larsson syndrome is a metabolic disorder characterized by accumulation of long-chain fatty alcohols in plasma of patients due to mutations in the ALDH3A2 gene, that codes for a microsomal fatty aldehyde dehydrogenase (FALDH). Recent studies have demonstrated that FALDH is involved in the last step of the conversion of 22-hydroxy-C22:0 into the dicarboxylic acid of C22:0 (C22:0-DCA).
METHODS
FALDH activity was determined by incubating fibroblast homogenates with omega-hydroxy-C22:0 in the presence of NAD(+). Electrospray ionization mass spectrometry (ESI-MS) was used to quantify the amounts of C22:0-DCA produced.
RESULTS
All SLS patients were deficient in C22:0-DCA productions with activities ranging from 3.2-26.3% of mean control.
CONCLUSIONS
The new assay described in this paper has substantial advantages over previous assays, and allows for the easy, reliable and rapid diagnosis of SLS.
背景
舍格伦-拉尔松综合征是一种代谢紊乱疾病，由于编码微粒体脂肪醛脱氢酶（FALDH）的ALDH3A2基因突变，导致患者血浆中长链脂肪醇积累。最近的研究表明，FALDH参与了22-羟基-C22:0转化为C22:0二羧酸（C22:0-DCA）的最后一步。
方法
通过在NAD(+)存在的情况下，将成纤维细胞匀浆与ω-羟基-C22:0孵育来测定FALDH活性。采用电喷雾电离质谱（ESI-MS）定量所产生的C22:0-DCA的量。
结果
所有舍格伦-拉尔松综合征患者的C22:0-DCA生成均存在缺陷，活性范围为平均对照的3.2%-26.3%。
结论
本文所述的新检测方法比以前的检测方法具有显著优势，能够实现对舍格伦-拉尔松综合征的简便、可靠且快速的诊断。
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