LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease

Introduction: Lipidomics analysis or lipid profiling is a system-based analysis of all lipids in a sample to provide a comprehensive understanding of lipids within a biological system. In the last few years, lipidomics has made it possible to better understand the metabolic processes associated with...

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Autores principales:	Hoda Safari Yazd, Sina Feizbakhsh Bazargani, Christine A. Vanbeek, Kelli King-Morris, Coy Heldermon, Mark S. Segal, William L. Clapp, Timothy J. Garrett
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/6e5927196f88404cad4ad39b4585a311
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spelling	oai:doaj.org-article:6e5927196f88404cad4ad39b4585a3112021-12-04T04:36:42ZLC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease2667-145X10.1016/j.jmsacl.2021.11.004https://doaj.org/article/6e5927196f88404cad4ad39b4585a3112021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2667145X21000298https://doaj.org/toc/2667-145XIntroduction: Lipidomics analysis or lipid profiling is a system-based analysis of all lipids in a sample to provide a comprehensive understanding of lipids within a biological system. In the last few years, lipidomics has made it possible to better understand the metabolic processes associated with several rare disorders and proved to be a powerful tool for their clinical investigation. Fabry disease is a rare X-linked lysosomal storage disorder (LSD) caused by a deficiency in α-galactosidase A (α-GAL A). This deficiency results in the progressive accumulation of glycosphingolipids, mostly globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3), as well as galabiosylceramide (Ga2) and their isoforms/analogs in the vascular endothelium, nerves, cardiomyocytes, renal glomerular podocytes, and biological fluids. Objectives: The primary objective of this study was to evaluate lipidomic signatures in renal biopsies to help understand variations in Fabry disease markers that could be used in future diagnostic tests. Methods: Lipidomic analysis was performed by ultra-high pressure liquid chromatography-high-resolution mass spectrometry (UHPLC-HRMS) on kidney biopsies that were left over after clinical pathology analysis to diagnose Fabry disease. Results: We employed UHPLC-HRMS lipidomics analysis on the renal biopsy of a patient suspicious for Fabry disease. Our result confirmed α-GAL A enzyme activity declined in this patient since a Ga2-related lipid biomarker was substantially higher in the patient's renal tissue biopsy compared with two controls. This suggests this patient has a type of LSD that could be non-classical Fabry disease. Conclusion: This study shows that lipidomics analysis is a valuable tool for rare disorder diagnosis, which can be conducted on leftover tissue samples without disrupting normal patient care.Hoda Safari YazdSina Feizbakhsh BazarganiChristine A. VanbeekKelli King-MorrisCoy HeldermonMark S. SegalWilliam L. ClappTimothy J. GarrettElsevierarticleMedical technologyR855-855.5ENJournal of Mass Spectrometry and Advances in the Clinical Lab, Vol 22, Iss , Pp 71-78 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medical technology R855-855.5
spellingShingle	Medical technology R855-855.5 Hoda Safari Yazd Sina Feizbakhsh Bazargani Christine A. Vanbeek Kelli King-Morris Coy Heldermon Mark S. Segal William L. Clapp Timothy J. Garrett LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
description	Introduction: Lipidomics analysis or lipid profiling is a system-based analysis of all lipids in a sample to provide a comprehensive understanding of lipids within a biological system. In the last few years, lipidomics has made it possible to better understand the metabolic processes associated with several rare disorders and proved to be a powerful tool for their clinical investigation. Fabry disease is a rare X-linked lysosomal storage disorder (LSD) caused by a deficiency in α-galactosidase A (α-GAL A). This deficiency results in the progressive accumulation of glycosphingolipids, mostly globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3), as well as galabiosylceramide (Ga2) and their isoforms/analogs in the vascular endothelium, nerves, cardiomyocytes, renal glomerular podocytes, and biological fluids. Objectives: The primary objective of this study was to evaluate lipidomic signatures in renal biopsies to help understand variations in Fabry disease markers that could be used in future diagnostic tests. Methods: Lipidomic analysis was performed by ultra-high pressure liquid chromatography-high-resolution mass spectrometry (UHPLC-HRMS) on kidney biopsies that were left over after clinical pathology analysis to diagnose Fabry disease. Results: We employed UHPLC-HRMS lipidomics analysis on the renal biopsy of a patient suspicious for Fabry disease. Our result confirmed α-GAL A enzyme activity declined in this patient since a Ga2-related lipid biomarker was substantially higher in the patient's renal tissue biopsy compared with two controls. This suggests this patient has a type of LSD that could be non-classical Fabry disease. Conclusion: This study shows that lipidomics analysis is a valuable tool for rare disorder diagnosis, which can be conducted on leftover tissue samples without disrupting normal patient care.
format	article
author	Hoda Safari Yazd Sina Feizbakhsh Bazargani Christine A. Vanbeek Kelli King-Morris Coy Heldermon Mark S. Segal William L. Clapp Timothy J. Garrett
author_facet	Hoda Safari Yazd Sina Feizbakhsh Bazargani Christine A. Vanbeek Kelli King-Morris Coy Heldermon Mark S. Segal William L. Clapp Timothy J. Garrett
author_sort	Hoda Safari Yazd
title	LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
title_short	LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
title_full	LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
title_fullStr	LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
title_full_unstemmed	LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
title_sort	lc-ms lipidomics of renal biopsies for the diagnosis of fabry disease
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/6e5927196f88404cad4ad39b4585a311
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LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease

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