Increase circulating levels of osteoclast precursors in Gaucher disease patients: implicances for bone pathology

MUCCI JM; CUELLO F; KISINOVSKY I; LARROUDE M; DE FRANCESCO, PN; DELPINO MV; ROZENFELD PA

Congreso; Lysosomal Disease Network-9th Annual WORLD Symposium; 2013

Pathological mechanisms of skeletal manifestations of Type I Gaucher disease (GD), are still poorly understood. Inflammation is a key factor and increased bone resorption markers have been described in patients. RANKL OPG RANK axis has been described as the central regulator of osteoclast differentiation. Previous results from our group showed an increase in osteoclastogenesis in our in vitro GD model. The aim of this study is to evaluate the presence of circulating osteoclast precursors (OP), along with the expression of surface molecules in lymphocytes from blood of patients with GD. PBMC were cultured in the presence of M-CSF and osteoclast differentiation was determined by counting TRAP positive multinucleated cells. IL-1β, TNF-α and IL-6 levels were determined in culture supernatants of PBMC by ELISA. Patients showed a higher percentage of CD14 + CD16 + CD51 + (15.4 ± 2.5 vs 11 ± 5.9%) as well as higher average fluorescence of RANKL in T lymphocytes (1.15 ± 0.07 fold Increase p