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

 Seul Kee Byeon  ;  Ju Yong Lee  ;  Jin-Sung Lee  ;  Myeong Hee Moon 
 JOURNAL OF CHROMATOGRAPHY A, Vol.1381 : 132-139, 2015 
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Case-Control Studies ; Cerebrosides/blood ; Cerebrosides/urine ; Chromatography, Liquid/methods ; Enzyme Replacement Therapy ; Gaucher Disease/blood* ; Gaucher Disease/diagnostic imaging* ; Gaucher Disease/therapy ; Glycosphingolipids/blood ; Glycosphingolipids/urine ; Humans ; Lipids/blood* ; Lipids/urine* ; Spectrometry, Mass, Electrospray Ionization ; Sphingomyelins/blood ; Sphingomyelins/urine ; Tandem Mass Spectrometry/methods ; Ultrasonography
Enzyme replacement therapy ; Gaucher disease ; Lipid profiling ; Monohexosylceramide (MHC) ; nLC–ESI–MS/MS
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
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