Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiency

Stem Cells Dev. 2012 Jan 20;21(2):239-48. doi: 10.1089/scd.2011.0365. Epub 2011 Oct 18.

Abstract

Gaucher disease (GD) is a lysosomal storage disorder due to glucocerebrosidase (GBA) deficiency. Mechanisms leading to the emergence of hematological and skeletal manifestations observed in GD are poorly explained. Bone marrow (BM) mesenchymal stem cells (MSCs) are multipotent progenitors that participate in the regulation of bone mass. MSCs should thus represent a cell population involved in the development or progression of bone disease in GD. In a chemical model of GD obtained with Conduritol β epoxide (CBE), a specific inhibitor of GBA activity, we functionally characterized BM MSCs and specifically analyzed their capacity to differentiate into osteoblasts. GBA deficiency obtained with CBE treatment, leads to a dramatic impairment of MSCs proliferation and to morphological abnormalities. Although the capacity of MSCs to differentiate into osteoblasts was not modified, the levels of several soluble factors that regulate bone metabolism were increased in MSCs treated with CBE, compared with untreated MSCs. Moreover, addition of conditioned media from CBE-treated MSCs on monocyte-derived osteoclasts cultured on bone matrix leads to an increase of resorption areas. These data suggested that, in GD, MSCs represents a stem cell population that is likely to be involved in bone pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow / enzymology*
  • Bone Resorption / pathology
  • Cell Cycle
  • Cell Differentiation
  • Cell Movement
  • Cell Proliferation
  • Cells, Cultured
  • Cellular Microenvironment
  • Culture Media, Conditioned
  • Gaucher Disease / chemically induced
  • Gaucher Disease / enzymology
  • Gaucher Disease / pathology*
  • Glucosylceramidase / deficiency*
  • Humans
  • Inositol / analogs & derivatives
  • Mesenchymal Stem Cells / cytology*
  • Mesenchymal Stem Cells / drug effects
  • Mesenchymal Stem Cells / enzymology
  • Models, Biological
  • Osteoblasts / enzymology
  • Osteoblasts / pathology*
  • Osteoclasts / drug effects
  • Osteoclasts / pathology*

Substances

  • Culture Media, Conditioned
  • Inositol
  • Glucosylceramidase
  • conduritol epoxide