Gaucher hMSCs present an altered osteoblast and adipose differentiation.

MUCCI JM; BONDAR C; ROZENFELD PA; CRIVARO, A.; DELPINO MV

Conferencia; Reunión anual de SAI-SAIC 2018; 2018

Gaucher disease (GD) is caused by mutations on the gene encoding the lysosomal enzyme glucocerebrosidase. Type I GD (GD1) patients present diverse symptoms as chronic inflammation, anemia, hepatosplenomegaly and bone alterations. The most widespread treatment for GD, enzyme replacement therapy (ERT), cannot completely reverse bone problems. Despite mechanisms leading to bone damage are not fully described, reports suggest that alterations in osteoblasts and osteoclast, as well as a chronic pro-inflammatory state, could be involved. It is known that mesenchymal stem cells (MSCs) differentiate to osteoblasts and adipocytes, so the aim of this work is to evaluate, in an in vitro model, the potential of MSCs from control and GD patients to differentiate towards the osteoblast (GDOb) and adipocyte (GDAd) lineage. Furthermore, we sought to analyze released cytokines from differentiated osteoblasts and the capacity of these cells to generate osteoclasts. The expression of differentiation markers were lower in GDOb at 14 days compared to control Ob: BMP-2 (p=0,001), Runx2 (p=0,01), ALP (p