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Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

Authors
 Seul Kee Byeon  ;  Jin Yong Kim  ;  Jin-Sung Lee  ;  Myeong Hee Moon 
Citation
 ANALYTICAL AND BIOANALYTICAL CHEMISTRY, Vol.408(9) : 2265-2274, 2016 
Journal Title
 ANALYTICAL AND BIOANALYTICAL CHEMISTRY 
ISSN
 1618-2642 
Issue Date
2016
MeSH
Case-Control Studies ; Chromatography, Liquid/methods* ; Enzyme Replacement Therapy* ; Fabry Disease/drug therapy* ; Humans ; Lipids/blood* ; Lipids/urine* ; Spectrometry, Mass, Electrospray Ionization/methods* ; alpha-Galactosidase/therapeutic use*
Keywords
Enzyme replacement therapy ; Fabry disease ; Lipid ; Nanoflow UPLC-ESI-MS/MS ; Trihexosylceramide (THC)
Abstract
A deficiency of α-galactosidase A causes Fabry disease (FD) by disrupting lipid metabolism, especially trihexosylceramide (THC). Enzyme replacement therapy (ERT) is clinically offered to FD patients in an attempt to lower the accumulated lipids. Studies on specific types of lipids that are directly or indirectly altered by FD are very scarce, even though they are crucial in understanding the biological process linked to the pathogenesis of FD. We performed a comprehensive lipid profiling of plasma and urinary lipids from FD patients with nanoflow liquid chromatography electrospray-ionization tandem mass spectrometry (nLC-ESI-MS/MS) and identified 129 plasma and 111 urinary lipids. Among these, lipids that exhibited alternations (>twofold) in patients were selected as targets for selected reaction monitoring (SRM)-based high-speed quantitation using nanoflow ultra-performance LC-ESI-MS/MS (nUPLC-ESI-MS/MS) and 31 plasma and 26 urinary lipids showed significant elevation among FD patients. Higher percentages of sphingolipids (SLs; 48% for plasma and 42% for urine) were highly elevated in patients; whereas, a smaller percentage of phospholipids (PLs; 15% for plasma and 13% for urine) were significantly affected. Even though α-galactosidase A is reported to affect THC only, the results show that other classes of lipids (especially SLs) are changed as well, indicating that FD not only alters metabolism of THC but various classes of lipids too. Most lipids showing significant increases in relative amounts before ERT decreased after ERT, but overall, ERT influenced plasma lipids more than urinary lipids.
Full Text
http://link.springer.com/article/10.1007/s00216-016-9318-1
DOI
10.1007/s00216-016-9318-1
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 1. Journal Papers
Yonsei Authors
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146917
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