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Glucosylsphingosine is a Highly Sensitive and Specific Biomarker in Gaucher Disease

Prof. Arndt Rolfs, MD Anne Katrin Giese, MD Ulrike Grittner, PhD Daniel Mascher, PhD Deborah Elstein Ari Zimran, MD Tobias Böttcher, PhD Jan Lukas, PhD Rayk Hübner Uta Gölnitz, MD Anja Röhle Ales Dudesek, MD Wolfgang Meyer, MD Matthias Wittstock, MD Prof. Hermann Mascher
November 20, 2013

PLoS ONE 8(11): e79732. doi:10.1371/journal.pone.0079732

Background: Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient bglucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18/PARC as biomarkers. Even though chitotriosidase is the most well-established biomarker in GD, it is not specific for GD. Furthermore, it may be false negative in a significant percentage of GD patients due to mutation. Additionally, chitotriosidase reflects the changes in the course of the disease belatedly. This further enhances the need for a reliable biomarker, especially for the monitoring of the disease and the impact of potential treatments.

Methodology: Here, we evaluated the sensitivity and specificity of the previously reported biomarker Glucosylsphingosine with regard to different control groups (healthy control vs. GD carriers vs. other LSDs).

Findings: Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before and during enzyme replacement therapy (ERT) in 19 patients, demonstrating a decrease in Glucosylsphingosine over time with the most pronounced reduction within the first 6 months of ERT. Furthermore, our data reveals a correlation between the medical consequence of specific mutations and Glucosylsphingosine.

Interpretation: In summary, Glucosylsphingosine is a very promising, reliable and specific biomarker for GD.