title: Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.
abstract: Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis, osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.
authors.affiliation: IIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, 47 y 115, 1900 La Plata, Argentina.
authors.forename: Juan Marcos
authors.initials: JM
authors.lastname: Mucci
authors.affiliation: IIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, 47 y 115, 1900 La Plata, Argentina.
authors.forename: Paula
authors.initials: P
authors.lastname: Rozenfeld
mesh_terms: D000818:Animals; D001842:Bone and Bones / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*; D005776:Gaucher Disease / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*; D005962:Glucosylceramidase / Q000378:metabolism; D006801:Humans; D007107:Immune System / Q000276:immunology* / Q000378:metabolism; D007249:Inflammation / Q000276:immunology / Q000378:metabolism / Q000473:pathology
chemical_list: D005962:Glucosylceramidase