Fig. 2

GBA1 mutation triggers osteoclastogenesis. A Representative images and B quantification of TRAP + polynucleated (≥ 3 nuclei) osteoclasts derived from PBMCs of patients with GD compared with age-, sex- and BMI-matched HDs (n = 6/group). Scale bar: 50 μm. C Representative images of the resorption assay. The blank area represents the location where osteoclasts have taken up material. D Percentage quantification of the resorbed area derived from PBMCs of patients with GD compared with age-, sex-, and BMI-matched HDs (n = 9/group). Scale bar: 20 μm. E Gene expression analysis of CTSK, ACP5, NFATc1, MMP9, and OCSTAMP in PBMCs of patients with GD compared with age-, sex- and BMI-matched HD osteoclasts (n = 6/group). F OPG and (G) RANKL was determined in plasma of patients with GD (n = 6) compared with age-, sex-, and BMI-matched HDs (n = 6). H Quantification of MFI of GBA1 in PBMCs of patients with GD compared with age-, sex-, and BMI-matched HDs (n = 6/group). I GCase activity was determined in PBMCs of patients with GD (n = 6) compared with age-, sex-, and BMI-matched HDs (n = 6). J Quantification of LysoGB1 concentration in plasma of patients with GD compared with age-, sex-, and BMI-matched HDs (n = 6/group). Data are presented as mean ± SEM. P values were determined by two-tailed paired Wilcoxon test (B and D-J). *P < 0.05, **P < 0.01, and ***P < 0.001