Unraveling the mystery of Gaucher bone density pathophysiology

ROZENFELD, P.A.; CRIVARO, A.N.; ORMAZABAL, M.; MUCCI, J.M.; BONDAR, C.; DELPINO, M.V.

MOLECULAR GENETICS AND METABOLISM

ACADEMIC PRESS INC ELSEVIER SCIENCE

Año: 2020

1096-7192

Gaucher disease (GD) is caused by pathogenic mutations in GBA1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. Despite the existence of a variety of specific treatments for GD, they cannot completely reverse bone complications. Many studies have evidenced the impairment in bone tissue of GD, so the aim of this review is summarize the mechanisms involved in the decrease of bone mineral density. Regarding this point, it seems that the reduction of osteoblast differentiation and activity, as well as osteoclasts number and activity are involved. Another cell type that is affected in Gaucher bone marrow are the resident adipocytes, which reflect a reduction of bone marrow fat in Gaucher patients. In conclusion, in GD the observed osteopenia/osteoporosis may be the result of contribution of both reduced bone formation and increased bone resorption.