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Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for...

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Autores principales: Herzog, Katharina, Pras-Raves, Mia L., Ferdinandusse, Sacha, Vervaart, Martin A. T., Luyf, Angela C. M., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., Vaz, Frédéric M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959966/
https://www.ncbi.nlm.nih.gov/pubmed/29209936
http://dx.doi.org/10.1007/s10545-017-0114-7
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author Herzog, Katharina
Pras-Raves, Mia L.
Ferdinandusse, Sacha
Vervaart, Martin A. T.
Luyf, Angela C. M.
van Kampen, Antoine H. C.
Wanders, Ronald J. A.
Waterham, Hans R.
Vaz, Frédéric M.
author_facet Herzog, Katharina
Pras-Raves, Mia L.
Ferdinandusse, Sacha
Vervaart, Martin A. T.
Luyf, Angela C. M.
van Kampen, Antoine H. C.
Wanders, Ronald J. A.
Waterham, Hans R.
Vaz, Frédéric M.
author_sort Herzog, Katharina
collection PubMed
description Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for diagnosis, disease-monitoring, identifying lipid biomarkers, and studying the underlying pathophysiology in disorders of lipid metabolism. In this study, we demonstrate the potential of lipidomics for the diagnosis of peroxisomal disorders using plasma samples from patients with different types of peroxisomal disorders. We show that the changes in the plasma profiles of phospholipids, di- and triglycerides, and cholesterol esters correspond with the characteristic metabolite abnormalities that are currently used in the metabolic screening for peroxisomal disorders. The lipidomics approach, however, gives a much more detailed overview of the metabolic changes that occur in the lipidome. Furthermore, we identified novel unique lipid species for specific peroxisomal diseases that are candidate biomarkers. The results presented in this paper show the power of lipidomics approaches to enable the specific diagnosis of different peroxisomal disorders. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10545-017-0114-7) contains supplementary material, which is available to authorized users.
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spelling pubmed-59599662018-05-24 Plasma lipidomics as a diagnostic tool for peroxisomal disorders Herzog, Katharina Pras-Raves, Mia L. Ferdinandusse, Sacha Vervaart, Martin A. T. Luyf, Angela C. M. van Kampen, Antoine H. C. Wanders, Ronald J. A. Waterham, Hans R. Vaz, Frédéric M. J Inherit Metab Dis Lipidomics Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for diagnosis, disease-monitoring, identifying lipid biomarkers, and studying the underlying pathophysiology in disorders of lipid metabolism. In this study, we demonstrate the potential of lipidomics for the diagnosis of peroxisomal disorders using plasma samples from patients with different types of peroxisomal disorders. We show that the changes in the plasma profiles of phospholipids, di- and triglycerides, and cholesterol esters correspond with the characteristic metabolite abnormalities that are currently used in the metabolic screening for peroxisomal disorders. The lipidomics approach, however, gives a much more detailed overview of the metabolic changes that occur in the lipidome. Furthermore, we identified novel unique lipid species for specific peroxisomal diseases that are candidate biomarkers. The results presented in this paper show the power of lipidomics approaches to enable the specific diagnosis of different peroxisomal disorders. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10545-017-0114-7) contains supplementary material, which is available to authorized users. Springer Netherlands 2017-12-05 2018 /pmc/articles/PMC5959966/ /pubmed/29209936 http://dx.doi.org/10.1007/s10545-017-0114-7 Text en © The Author(s) 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Lipidomics
Herzog, Katharina
Pras-Raves, Mia L.
Ferdinandusse, Sacha
Vervaart, Martin A. T.
Luyf, Angela C. M.
van Kampen, Antoine H. C.
Wanders, Ronald J. A.
Waterham, Hans R.
Vaz, Frédéric M.
Plasma lipidomics as a diagnostic tool for peroxisomal disorders
title Plasma lipidomics as a diagnostic tool for peroxisomal disorders
title_full Plasma lipidomics as a diagnostic tool for peroxisomal disorders
title_fullStr Plasma lipidomics as a diagnostic tool for peroxisomal disorders
title_full_unstemmed Plasma lipidomics as a diagnostic tool for peroxisomal disorders
title_short Plasma lipidomics as a diagnostic tool for peroxisomal disorders
title_sort plasma lipidomics as a diagnostic tool for peroxisomal disorders
topic Lipidomics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959966/
https://www.ncbi.nlm.nih.gov/pubmed/29209936
http://dx.doi.org/10.1007/s10545-017-0114-7
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