Soluble mannose receptor is a potential new biomarker for gaucher disease

Abstract

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrocidase. Biomarkers currently used to assess overall disease burden are not specific to GD and do not reliably reflect individual domains of organ involvement. Soluble mannose receptor (sMR) has been assessed as a biomarker in various diseases. It has not been assessed in GD to date. In this study, 16 treatment naïve type 1 GD patients, 14 with paired post-treatment sera and 10 non-GD controls had sMR measured by ELISA. Mean sMR in treatment naïve sera was 291.2±178.8 ng/mL compared to post-treatment 200.5±103.1 ng/mL (p=0.01). Mean sMR of the control group was 182.1±48.0 ng/mL. There was good correlation with all domains of GD activity: platelet count (rho=0.56, p=0.0004), haemoglobin (rho=0.64, p=0.0005), spleen volume (rho=0.58, p=0.011), liver volume (rho=0.43, p=0.05), bone marrow burden score (rho=0.58, p=0.007). There was strong correlation with immunoglobulin levels: IgA (rho=0.5, p=0.012), IgG (rho=0.66, p=0.0004), IgM (rho=0.85, p≤0.0001). sMR correlated well with other biomarkers: chitotriosidase (rho=0.47, p=0.017), PARC (rho=0.66, p=0.0058), osteoactivin (rho=0.57, p=0.019), and MIP-1alpha (rho=0.66, p=0.005). sMR is a potential new biomarker for GD and may be useful in predicting plasma cell dyscrasiae.