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Open Access 01-05-2018 | Lipidomics

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Authors: Katharina Herzog, Mia L. Pras-Raves, Sacha Ferdinandusse, Martin A. T. Vervaart, Angela C. M. Luyf, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, Frédéric M. Vaz

Published in: Journal of Inherited Metabolic Disease | Issue 3/2018

Abstract

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.

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Title: Plasma lipidomics as a diagnostic tool for peroxisomal disorders
Authors: Katharina Herzog
Mia L. Pras-Raves
Sacha Ferdinandusse
Martin A. T. Vervaart
Angela C. M. Luyf
Antoine H. C. van Kampen
Ronald J. A. Wanders
Hans R. Waterham
Frédéric M. Vaz
Publication date: 01-05-2018
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 3/2018
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0114-7

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