TY - JOUR
T1 - Plasma lipidomics as a diagnostic tool for peroxisomal disorders
AU - Herzog, Katharina
AU - Pras-Raves, Mia L.
AU - Ferdinandusse, Sacha
AU - Vervaart, Martin A. T.
AU - Luyf, Angela C. M.
AU - van Kampen, Antoine H. C.
AU - Wanders, Ronald J. A.
AU - Waterham, Hans R.
AU - Vaz, Frédéric M.
N1 - With supplementary materials
PY - 2018/5
Y1 - 2018/5
N2 - 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.
AB - 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.
KW - Journal Article
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85037663153&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29209936
UR - https://pure.uva.nl/ws/files/28167309/10545_2017_114_MOESM1_ESM.docx
UR - https://pure.uva.nl/ws/files/28167311/10545_2017_114_MOESM2_ESM.xlsx
UR - https://pure.uva.nl/ws/files/28167313/10545_2017_114_MOESM3_ESM.xlsx
U2 - https://doi.org/10.1007/s10545-017-0114-7
DO - https://doi.org/10.1007/s10545-017-0114-7
M3 - Article
C2 - 29209936
SN - 0141-8955
VL - 41
SP - 489
EP - 498
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 3
ER -