Enzymatic diagnosis of Sjogren-Larsson syndrome using electrospray ionization mass spectrometry

摘要

Background: Sjogren-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. (C) 2009 Elsevier B.V. All rights reserved.