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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
•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 le...
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Published in: | Journal of Chromatography A 2015-02, Vol.1381, p.132-139 |
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description | •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. |
doi_str_mv | 10.1016/j.chroma.2015.01.004 |
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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.</description><identifier>ISSN: 0021-9673</identifier><identifier>DOI: 10.1016/j.chroma.2015.01.004</identifier><language>eng</language><publisher>Elsevier B.V</publisher><subject>Chromatography ; Control equipment ; Enzyme replacement therapy ; Enzymes ; Gaucher disease ; Lipid profiling ; Lipids ; Monohexosylceramide (MHC) ; nLC–ESI–MS/MS ; Patients ; Receiving ; Therapy ; Urine</subject><ispartof>Journal of Chromatography A, 2015-02, Vol.1381, p.132-139</ispartof><rights>2015 Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c465t-766a0b2d6200fa5125a9eac507e547fd1fc74b9bb186d977399c512b1d12c6a23</citedby><cites>FETCH-LOGICAL-c465t-766a0b2d6200fa5125a9eac507e547fd1fc74b9bb186d977399c512b1d12c6a23</cites><orcidid>0000-0002-5454-2601</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27898,27899</link.rule.ids></links><search><creatorcontrib>Byeon, Seul Kee</creatorcontrib><creatorcontrib>Lee, Ju Yong</creatorcontrib><creatorcontrib>Lee, Jin-Sung</creatorcontrib><creatorcontrib>Moon, Myeong Hee</creatorcontrib><title>Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography–tandem mass spectrometry</title><title>Journal of Chromatography A</title><description>•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.</description><subject>Chromatography</subject><subject>Control equipment</subject><subject>Enzyme replacement therapy</subject><subject>Enzymes</subject><subject>Gaucher disease</subject><subject>Lipid profiling</subject><subject>Lipids</subject><subject>Monohexosylceramide (MHC)</subject><subject>nLC–ESI–MS/MS</subject><subject>Patients</subject><subject>Receiving</subject><subject>Therapy</subject><subject>Urine</subject><issn>0021-9673</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNp9kbGO1DAQhlOAxHHHG1BMSbPBzib2pUFCJ7hDWonmqK2JPd71Ko5ztsMpVLwDT8Fr8SR4FWqqKeabf-afv6reclZzxsX7c61PMXisG8a7mvGasfZFdcVYw3e9kPtX1euUzoxxyWRzVf0-uNmZ4J2GOQbrRjcdIViYR0weAScDS3QTgS2iMGN2NOUEzy6f4B4XfaIIxiXCRGAu5BFo-rF6gkhFQ5MvPOSC4bzCsMKEU7BjeIbRPS3OwHZtDscCnNY_P3_lspM8eEwJ0kw6lz7luN5ULy2Oid78q9fVt8-fHu8edoev91_uPh52uhVd3kkhkA2NEQ1jFjvedNgT6o5J6lppDbdatkM_DPxWmF7Kfd_rQg3c8EYLbPbX1btNt_zjaaGUlXdJ0zjiRGFJiovbTsq-521B2w3VMaQUyao5Oo9xVZypSxrqrDZ_6pKGYlyVNMrYh22Mio3vjqJKurxVk3Gx-FUmuP8L_AX8dZ2W</recordid><startdate>20150213</startdate><enddate>20150213</enddate><creator>Byeon, Seul Kee</creator><creator>Lee, Ju Yong</creator><creator>Lee, Jin-Sung</creator><creator>Moon, Myeong Hee</creator><general>Elsevier B.V</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7U5</scope><scope>8FD</scope><scope>L7M</scope><orcidid>https://orcid.org/0000-0002-5454-2601</orcidid></search><sort><creationdate>20150213</creationdate><title>Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography–tandem mass spectrometry</title><author>Byeon, Seul Kee ; Lee, Ju Yong ; Lee, Jin-Sung ; Moon, Myeong Hee</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c465t-766a0b2d6200fa5125a9eac507e547fd1fc74b9bb186d977399c512b1d12c6a23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Chromatography</topic><topic>Control equipment</topic><topic>Enzyme replacement therapy</topic><topic>Enzymes</topic><topic>Gaucher disease</topic><topic>Lipid profiling</topic><topic>Lipids</topic><topic>Monohexosylceramide (MHC)</topic><topic>nLC–ESI–MS/MS</topic><topic>Patients</topic><topic>Receiving</topic><topic>Therapy</topic><topic>Urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Byeon, Seul Kee</creatorcontrib><creatorcontrib>Lee, Ju Yong</creatorcontrib><creatorcontrib>Lee, Jin-Sung</creatorcontrib><creatorcontrib>Moon, Myeong Hee</creatorcontrib><collection>CrossRef</collection><collection>Solid State and Superconductivity Abstracts</collection><collection>Technology Research Database</collection><collection>Advanced Technologies Database with Aerospace</collection><jtitle>Journal of Chromatography A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Byeon, Seul Kee</au><au>Lee, Ju Yong</au><au>Lee, Jin-Sung</au><au>Moon, Myeong Hee</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography–tandem mass spectrometry</atitle><jtitle>Journal of Chromatography A</jtitle><date>2015-02-13</date><risdate>2015</risdate><volume>1381</volume><spage>132</spage><epage>139</epage><pages>132-139</pages><issn>0021-9673</issn><abstract>•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.</abstract><pub>Elsevier B.V</pub><doi>10.1016/j.chroma.2015.01.004</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-5454-2601</orcidid></addata></record> |
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subjects | Chromatography Control equipment Enzyme replacement therapy Enzymes Gaucher disease Lipid profiling Lipids Monohexosylceramide (MHC) nLC–ESI–MS/MS Patients Receiving Therapy Urine |
title | Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography–tandem mass spectrometry |
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