Lipidomic Profiling of Peripheral Extracellular Vesicles as a Potential Source of Biomarkers in Gaucher Disease
4 affiliations
- 1Department of Pathology, Immunology and Laboratory Medicine, Southeast Center for Integrated Metabolomics (SECIM), College of Medicine, University of Florida, Gainesville, FL 32610, USA
- 2Department of Microbiology and Cell Science, Institute of Food and Agricultural Sciences, University of Florida, Gainesville, FL 32610, USA
- 3Departments of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
- 4NewYork-Presbyterian Morgan Stanley Children’s Hospital, New York, NY 10032, USA
Abstract
Extracellular vesicles (EVs) are small, membrane-enclosed nanovesicles released by cells and play an essential role in cellular communication. EVs contain condensed information about physiological/pathological states, serving as fingerprints and providing access to candidate biomarkers with potential monitoring and prognostic value. In this context, we isolated EVs from serum and urine samples from patients with Gaucher disease type 1 (GD1), a lysosomal disease (LD) caused by glucocerebrosidase deficiency. Using LC-MS/MS lipidomics, we analyzed 52 serum- and urine-derived EVs from 15 patients with GD1, including those undergoing enzyme replacement therapy (ERT). EV specimens were biologically characterized and showed increased levels of glucosylceramide and related sphingolipids. Interestingly, in the lipidomic analysis, sphingomyelin, phosphoethanolamine (PE), plasmenyl-PE, phosphatidylcholine, and some triglyceride species showed a distinct pattern in GD1. The lipidomic profiles of isolated EVs change dynamically during ERT, supporting the potential utility of EV-based biomarkers for disease staging and assessment of therapeutic response. In sum, circulating EVs with specific lipidomic profiles reflecting pathophysiological conditions are a potential source of candidate GD1 biomarkers. Given that their biogenesis is closely linked to impairment of the endosomal/lysosomal system, as classically observed in GD1 and other LDs, EV-based lipid profiling may, after validation in independent cohorts, contribute to individualized and precise monitoring of current and emerging therapies for these disorders.
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BibTeX
@article{guingabcagmat2026lipidomic,
title = {{Lipidomic Profiling of Peripheral Extracellular Vesicles as a Potential Source of Biomarkers in Gaucher Disease}},
author = {Joy Guingab-Cagmat and Mariola J. Ferraro and Timothy J. Garrett and Gustavo H. B. Maegawa},
journal = {Cells},
year = {2026},
month = oct,
doi = {10.3390/cells15201862},
url = {https://www.mdpi.com/2073-4409/15/20/1862},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Lipidomic Profiling of Peripheral Extracellular Vesicles as a Potential Source of Biomarkers in Gaucher Disease
AU - Joy Guingab-Cagmat
AU - Mariola J. Ferraro
AU - Timothy J. Garrett
AU - Gustavo H. B. Maegawa
PY - 2026
DA - 2026/10/13
JO - Cells
DO - 10.3390/cells15201862
UR - https://www.mdpi.com/2073-4409/15/20/1862
AB - Extracellular vesicles (EVs) are small, membrane-enclosed nanovesicles released by cells and play an essential role in cellular communication. EVs contain condensed information about physiological/pathological states, serving as fingerprints and providing access to candidate biomarkers with potential monitoring and prognostic value. In this context, we isolated EVs from serum and urine samples from patients with Gaucher disease type 1 (GD1), a lysosomal disease (LD) caused by glucocerebrosidase deficiency. Using LC-MS/MS lipidomics, we analyzed 52 serum- and urine-derived EVs from 15 patients with GD1, including those undergoing enzyme replacement therapy (ERT). EV specimens were biologically characterized and showed increased levels of glucosylceramide and related sphingolipids. Interestingly, in the lipidomic analysis, sphingomyelin, phosphoethanolamine (PE), plasmenyl-PE, phosphatidylcholine, and some triglyceride species showed a distinct pattern in GD1. The lipidomic profiles of isolated EVs change dynamically during ERT, supporting the potential utility of EV-based biomarkers for disease staging and assessment of therapeutic response. In sum, circulating EVs with specific lipidomic profiles reflecting pathophysiological conditions are a potential source of candidate GD1 biomarkers. Given that their biogenesis is closely linked to impairment of the endosomal/lysosomal system, as classically observed in GD1 and other LDs, EV-based lipid profiling may, after validation in independent cohorts, contribute to individualized and precise monitoring of current and emerging therapies for these disorders.
SN - 2073-4409
ER -