At a time when significant attention is devoted worldwide to stem cells as a potential tool for curing incurable diseases, fibrous dysplasia of bone (FD) provides a paradigm for stem cell diseases. Consideration of the time and mechanism of the causative mutations and of nature of the pluripotent cells that mutate in early embryonic development indicates that, as a disease of the entire organism, FD can be seen as a disease of pluripotent embryonic cells. As a disease of bone as an organ, in turn, FD can be seen as a disease of postnatal skeletal stem cells, which give rise to dysfunctional osteoblasts. Recognizing FD as a stem cell disease provides a novel conceptual angle and a way to generate appropriate models of the disease, which will continue to provide further insight into its natural history and pathogenesis. In addition, skeletal stem cells may represent a tool for innovative treatments. These can be conceived as directed to alter the in vivo behavior of mutated stem cells, to replace mutated cells through local transplantation, or to correct the genetic defect in the stem cells themselves. In vitro and in vivo models are currently being generated that will permit exploration of these avenues in depth.

Fibrous dysplasia as a stem cell disease / Riminucci, Mara; Saggio, Isabella; Robey, Pamela; Bianco, Paolo. - In: JOURNAL OF BONE AND MINERAL RESEARCH. - ISSN 1523-4681. - 21:Suppl 2(2006), pp. 125-131. [10.1359/jbmr.06s224]

Fibrous dysplasia as a stem cell disease

Riminucci Mara;Saggio Isabella;Bianco Paolo
2006

Abstract

At a time when significant attention is devoted worldwide to stem cells as a potential tool for curing incurable diseases, fibrous dysplasia of bone (FD) provides a paradigm for stem cell diseases. Consideration of the time and mechanism of the causative mutations and of nature of the pluripotent cells that mutate in early embryonic development indicates that, as a disease of the entire organism, FD can be seen as a disease of pluripotent embryonic cells. As a disease of bone as an organ, in turn, FD can be seen as a disease of postnatal skeletal stem cells, which give rise to dysfunctional osteoblasts. Recognizing FD as a stem cell disease provides a novel conceptual angle and a way to generate appropriate models of the disease, which will continue to provide further insight into its natural history and pathogenesis. In addition, skeletal stem cells may represent a tool for innovative treatments. These can be conceived as directed to alter the in vivo behavior of mutated stem cells, to replace mutated cells through local transplantation, or to correct the genetic defect in the stem cells themselves. In vitro and in vivo models are currently being generated that will permit exploration of these avenues in depth.
2006
fibrous dysplasia; GNAS; skeletal stem cells; embryonic stem cells
01 Pubblicazione su rivista::01a Articolo in rivista
Fibrous dysplasia as a stem cell disease / Riminucci, Mara; Saggio, Isabella; Robey, Pamela; Bianco, Paolo. - In: JOURNAL OF BONE AND MINERAL RESEARCH. - ISSN 1523-4681. - 21:Suppl 2(2006), pp. 125-131. [10.1359/jbmr.06s224]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1288088
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