Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/255488 |
Resumo: | Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a biomarker for ASMD in tissues, plasma, and dried blood spots (DBS) and lysosphingomyelin-509 (LysoSM509) is the carboxylated analogue of LysoSM. High levels of Lysosphingomyelin 509 (LysoSM509) have also been shown in ASMD patients. In this study, we report the utility of the quantification of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS). Results DBS samples from 14 ASMD patients were compared with 15 controls, and 44 general newborns. All patients had their diagnosis confirmed by the quantification of ASM and the measurement of the activity of chitotriosidase. All patients had significantly higher levels of lysoSM and lysoSM509 compared to controls and general newborns. Conclusions The quantification of lysosphingolipids in DBS is a valuable tool for the diagnosis of ASMD patients and lysoSM can be useful in the differential diagnosis with NPC. This method is also valuable in the ASMD newborn screening process. |
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Kubaski, FrancyneBurlina, AlbertoTrapp, Franciele BarbosaTirelli, Kristiane MichelinLopes, Franciele FátimaFacchin, Ana Carolina BrusiusNetto, Alice Brinckmann OliveiraPoletto, ÉdinaGiugliani, Roberto2023-03-10T03:25:25Z20221750-1172http://hdl.handle.net/10183/255488001160950Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a biomarker for ASMD in tissues, plasma, and dried blood spots (DBS) and lysosphingomyelin-509 (LysoSM509) is the carboxylated analogue of LysoSM. High levels of Lysosphingomyelin 509 (LysoSM509) have also been shown in ASMD patients. In this study, we report the utility of the quantification of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS). Results DBS samples from 14 ASMD patients were compared with 15 controls, and 44 general newborns. All patients had their diagnosis confirmed by the quantification of ASM and the measurement of the activity of chitotriosidase. All patients had significantly higher levels of lysoSM and lysoSM509 compared to controls and general newborns. Conclusions The quantification of lysosphingolipids in DBS is a valuable tool for the diagnosis of ASMD patients and lysoSM can be useful in the differential diagnosis with NPC. This method is also valuable in the ASMD newborn screening process.application/pdfengOrphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.BiomarcadoresDoenças de Niemann-PickDoenças por armazenamento dos lisossomosEspectrometria de massas em TandemAcid sphingomyelinase defciencyLysosphingomyelinTandem mass spectrometryBiomarkerNiemannPick type a/bQuantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiencyEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001160950.pdf.txt001160950.pdf.txtExtracted Texttext/plain32571http://www.lume.ufrgs.br/bitstream/10183/255488/2/001160950.pdf.txtbc63fdaec70f7f6972e69b36ec2db1f7MD52ORIGINAL001160950.pdfTexto completo (inglês)application/pdf1282451http://www.lume.ufrgs.br/bitstream/10183/255488/1/001160950.pdfaca00cbb8fbf9edbbdd29a9fdbdc762aMD5110183/2554882023-03-11 03:28:02.921423oai:www.lume.ufrgs.br:10183/255488Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-03-11T06:28:02Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
title |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
spellingShingle |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency Kubaski, Francyne Biomarcadores Doenças de Niemann-Pick Doenças por armazenamento dos lisossomos Espectrometria de massas em Tandem Acid sphingomyelinase defciency Lysosphingomyelin Tandem mass spectrometry Biomarker NiemannPick type a/b |
title_short |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
title_full |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
title_fullStr |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
title_full_unstemmed |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
title_sort |
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency |
author |
Kubaski, Francyne |
author_facet |
Kubaski, Francyne Burlina, Alberto Trapp, Franciele Barbosa Tirelli, Kristiane Michelin Lopes, Franciele Fátima Facchin, Ana Carolina Brusius Netto, Alice Brinckmann Oliveira Poletto, Édina Giugliani, Roberto |
author_role |
author |
author2 |
Burlina, Alberto Trapp, Franciele Barbosa Tirelli, Kristiane Michelin Lopes, Franciele Fátima Facchin, Ana Carolina Brusius Netto, Alice Brinckmann Oliveira Poletto, Édina Giugliani, Roberto |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Kubaski, Francyne Burlina, Alberto Trapp, Franciele Barbosa Tirelli, Kristiane Michelin Lopes, Franciele Fátima Facchin, Ana Carolina Brusius Netto, Alice Brinckmann Oliveira Poletto, Édina Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Biomarcadores Doenças de Niemann-Pick Doenças por armazenamento dos lisossomos Espectrometria de massas em Tandem |
topic |
Biomarcadores Doenças de Niemann-Pick Doenças por armazenamento dos lisossomos Espectrometria de massas em Tandem Acid sphingomyelinase defciency Lysosphingomyelin Tandem mass spectrometry Biomarker NiemannPick type a/b |
dc.subject.eng.fl_str_mv |
Acid sphingomyelinase defciency Lysosphingomyelin Tandem mass spectrometry Biomarker NiemannPick type a/b |
description |
Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a biomarker for ASMD in tissues, plasma, and dried blood spots (DBS) and lysosphingomyelin-509 (LysoSM509) is the carboxylated analogue of LysoSM. High levels of Lysosphingomyelin 509 (LysoSM509) have also been shown in ASMD patients. In this study, we report the utility of the quantification of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS). Results DBS samples from 14 ASMD patients were compared with 15 controls, and 44 general newborns. All patients had their diagnosis confirmed by the quantification of ASM and the measurement of the activity of chitotriosidase. All patients had significantly higher levels of lysoSM and lysoSM509 compared to controls and general newborns. Conclusions The quantification of lysosphingolipids in DBS is a valuable tool for the diagnosis of ASMD patients and lysoSM can be useful in the differential diagnosis with NPC. This method is also valuable in the ASMD newborn screening process. |
publishDate |
2022 |
dc.date.issued.fl_str_mv |
2022 |
dc.date.accessioned.fl_str_mv |
2023-03-10T03:25:25Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/255488 |
dc.identifier.issn.pt_BR.fl_str_mv |
1750-1172 |
dc.identifier.nrb.pt_BR.fl_str_mv |
001160950 |
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1750-1172 001160950 |
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http://hdl.handle.net/10183/255488 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p. |
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info:eu-repo/semantics/openAccess |
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openAccess |
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