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Published on: December 20, 2017
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Plasma and platelet lipidome changes in Fabry disease
Bo Burla1, Jeongah Oh2, Albina Nowak3
1Singapore Lipidomics Incubator, Life Sciences Institute, National University of Singapore, Singapore.
Summary
This study reveals altered lipid profiles in plasma and platelets of Fabry disease (FD) patients. These findings suggest potential new biomarkers for screening and monitoring FD, a rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Metabolomics
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder causing globotriaosylceramide (Gb3) accumulation.
- FD leads to systemic issues like kidney disease, cardiomyopathy, and stroke.
- Current understanding of FD's inflammatory and fibrotic mechanisms needs improvement, and novel screening markers are required.
Purpose of the Study:
- To identify novel biomarkers for Fabry disease screening and prognosis.
- To investigate lipidome alterations in plasma and platelets of FD patients.
- To explore the role of platelets in the pathophysiology of Fabry disease.
Main Methods:
- Collected plasma and platelets from enzyme-replacement therapy (ERT)-treated FD patients, asymptomatic FD patients, and healthy controls.
- Performed comprehensive targeted lipidomics analysis, quantifying over 550 lipid species.
- Analyzed lipid profiles in both plasma and platelet samples.
Main Results:
- Significantly elevated sphingadiene-containing sphingolipids, including Gb3 and Ga2, were observed in FD patients' plasma.
- Plasma levels of lyso-dihexosylceramides, sphingoid base 1-phosphates (S1P), and GM3 ganglioside were altered in FD patients.
- Platelets accumulated lyso-Gb3, acylcarnitines, C16:0-sphingolipids, and S1P, despite no increase in Gb3.
Conclusions:
- Identified distinct lipidome changes in plasma and platelets associated with Fabry disease.
- Suggests a potential involvement of platelets in the disease's progression.
- Highlights potential novel lipid biomarkers for FD screening and monitoring.
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