Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography–tandem mass spectrometry

• Published in: Journal of Chromatography A 2015-02, Vol.1381, p.132-139
• Main Authors: Byeon, Seul Kee, Lee, Ju Yong, Lee, Jin-Sung, Moon, Myeong Hee
• Format: Article
• Language: English
• Subjects: Chromatography; Control equipment; Enzyme replacement therapy; Enzymes; Gaucher disease; Lipid profiling; Lipids; Monohexosylceramide (MHC); nLC–ESI–MS/MS; Patients; Receiving; Therapy; Urine
• ISSN: 0021-9673
• DOI: 10.1016/j.chroma.2015.01.004

•Plasma and urinary lipids from Gaucher disease patients were profiled.•Changes of lipids in GD patients before and after enzyme replacement therapy were investigated.•20 plasma and 10 urinary lipids showed significant differences compared to controls.•Enzyme replacement therapy decreased overall levels of five MHC's in patients. Gaucher disease (GD) is a rare genetic disorder that arises from lipid species, especially monohexosylceramide (MHC), accumulating in different organs. GD results from a β-glucocerebrosidase deficiency, causing metabolic or neurologic complications. This study comprehensively profiled lipids from patients and healthy controls to discover active lipid species related to GD. Most studies have evaluated lipids from one type of biological sample, such as plasma, urine, or spinal fluid, which are the main sources of lipids in human bodies. The purpose of this study, however, was to collect and assess both plasma and urine samples from a group of individuals, explore the lipids, and select characteristic species that show significant differences between controls and patients from the two sources. Also, the response of lipids to enzyme replacement therapy (ERT), which is targeted to reduce excessive lipid accumulation within lysosomes, was investigated by obtaining plasma and urine from patients after receiving the therapy. Most lipid species were found in both plasma and urine but their concentrations differed, and some species were found in either plasma or urine only. Out of 125 plasma and 105 urinary lipids that were identified by nLC–ESI–MS/MS, 20 plasma and 10 urinary lipids were selected as characteristic species for having average concentrations that were significantly increased or decreased in patients by greater than 2-fold. Moreover, the concentrations of most lipids that showed greater than 2-fold of difference in patients decreased after ERT indicating that these species were directly or indirectly affected by the therapy.