Editor's Comment and Q&amp;A

Mukherjee, Padma M.; Wang, Chiachien J.; Chen, I.-Ping; Jafarov, Toghrul; Olsen, Bjørn R.; Ueki, Yasuyoshi; Reichenberger, Ernst

doi:10.1016/j.ajodo.2010.04.004

Cited by 2 publications

(2 citation statements)

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“…Although heterozygous mice developed osteopenia of all bones, they did not show cherubic lesions or detectable swellings of lymph nodes as the homozygous mice did. Homozygous mice were smaller at birth and failed to thrive [52,78]. They were smaller, weighed less than wild-type littermates and had an average life span of 6 months.…”

Section: Animal Modelsmentioning

confidence: 99%

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The role of SH3BP2 in the pathophysiology of cherubism

Reichenberger

Levine

Olsen

et al. 2012

Orphanet Journal of Rare Diseases

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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.

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Section: Animal Modelsmentioning

confidence: 99%

“…The increased bone resorption is attributed to increased osteoclastogenesis and resorptive activity of osteoclasts and not to increased numbers of osteoclast progenitors. Osteoclast progenitor numbers are not changed between wild-type, heterozygous and homozygous mutant mice [78]. …”

Section: Animal Modelsmentioning

confidence: 99%

The role of SH3BP2 in the pathophysiology of cherubism

Reichenberger

Levine

Olsen

et al. 2012

Orphanet Journal of Rare Diseases

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Regulation of differentiation and generation of osteoclasts in rheumatoid arthritis

et al. 2022

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IntroductionRheumatoid arthritis (RA), which affects nearly 1% of the world’s population, is a debilitating autoimmune disease. Bone erosion caused by periarticular osteopenia and synovial pannus formation is the most destructive pathological changes of RA, also leads to joint deformity and loss of function,and ultimately affects the quality of life of patients. Osteoclasts (OCs) are the only known bone resorption cells and their abnormal differentiation and production play an important role in the occurrence and development of RA bone destruction; this remains the main culprit behind RA.MethodBased on the latest published literature and research progress at home and abroad, this paper reviews the abnormal regulation mechanism of OC generation and differentiation in RA and the possible targeted therapy.ResultOC-mediated bone destruction is achieved through the regulation of a variety of cytokines and cell-to-cell interactions, including gene transcription, epigenetics and environmental factors. At present, most methods for the treatment of RA are based on the regulation of inflammation, the inhibition of bone injury and joint deformities remains unexplored.DiscussionThis article will review the mechanism of abnormal differentiation of OC in RA, and summarise the current treatment oftargeting cytokines in the process of OC generation and differentiation to reduce bone destruction in patients with RA, which isexpected to become a valuable treatment choice to inhibit bone destruction in RA.

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Editor's Comment and Q&A

Cited by 2 publications

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The role of SH3BP2 in the pathophysiology of cherubism

The role of SH3BP2 in the pathophysiology of cherubism

Regulation of differentiation and generation of osteoclasts in rheumatoid arthritis

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