Cargando…
The role of SH3BP2 in the pathophysiology of cherubism
Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359958/ https://www.ncbi.nlm.nih.gov/pubmed/22640988 http://dx.doi.org/10.1186/1750-1172-7-S1-S5 |
_version_ | 1782233926276743168 |
---|---|
author | Reichenberger, Ernst J Levine, Michael A Olsen, Bjorn R Papadaki, Maria E Lietman, Steven A |
author_facet | Reichenberger, Ernst J Levine, Michael A Olsen, Bjorn R Papadaki, Maria E Lietman, Steven A |
author_sort | Reichenberger, Ernst J |
collection | PubMed |
description | Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans. |
format | Online Article Text |
id | pubmed-3359958 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-33599582012-05-25 The role of SH3BP2 in the pathophysiology of cherubism Reichenberger, Ernst J Levine, Michael A Olsen, Bjorn R Papadaki, Maria E Lietman, Steven A Orphanet J Rare Dis Proceedings Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans. BioMed Central 2012-05-24 /pmc/articles/PMC3359958/ /pubmed/22640988 http://dx.doi.org/10.1186/1750-1172-7-S1-S5 Text en Copyright ©2012 Reichenberger et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Proceedings Reichenberger, Ernst J Levine, Michael A Olsen, Bjorn R Papadaki, Maria E Lietman, Steven A The role of SH3BP2 in the pathophysiology of cherubism |
title | The role of SH3BP2 in the pathophysiology of cherubism |
title_full | The role of SH3BP2 in the pathophysiology of cherubism |
title_fullStr | The role of SH3BP2 in the pathophysiology of cherubism |
title_full_unstemmed | The role of SH3BP2 in the pathophysiology of cherubism |
title_short | The role of SH3BP2 in the pathophysiology of cherubism |
title_sort | role of sh3bp2 in the pathophysiology of cherubism |
topic | Proceedings |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359958/ https://www.ncbi.nlm.nih.gov/pubmed/22640988 http://dx.doi.org/10.1186/1750-1172-7-S1-S5 |
work_keys_str_mv | AT reichenbergerernstj theroleofsh3bp2inthepathophysiologyofcherubism AT levinemichaela theroleofsh3bp2inthepathophysiologyofcherubism AT olsenbjornr theroleofsh3bp2inthepathophysiologyofcherubism AT papadakimariae theroleofsh3bp2inthepathophysiologyofcherubism AT lietmanstevena theroleofsh3bp2inthepathophysiologyofcherubism AT reichenbergerernstj roleofsh3bp2inthepathophysiologyofcherubism AT levinemichaela roleofsh3bp2inthepathophysiologyofcherubism AT olsenbjornr roleofsh3bp2inthepathophysiologyofcherubism AT papadakimariae roleofsh3bp2inthepathophysiologyofcherubism AT lietmanstevena roleofsh3bp2inthepathophysiologyofcherubism |