Oral and Craniofacial Sciences Faculty

Yasuyoshi Ueki, M.D., Ph.D.

























Dr. Ueki has been working on the molecular and cellular pathogenesis of Cherubism (OMIM#118400), a rare human craniofacial disorder in children characterized by the accumulation of fibrous/inflammatory lesions and progressive jaw bone resorption, resulting in a disfiguring facial appearance. Dr. Ueki discovered genetic mutations responsible for cherubism in SH3BP2 and showed that the gain-of-function mutation enhances RANKL- and TNF-alpha-induced osteoclast formation with a mouse model of cherubism. He also showed that the mutation increases TNF-alpha production in macrophages in response to M-CSF and ligands for toll-like receptors (TLRs). Finally, he demonstrated that cherubism is an auto- and homeostatic-inflammatory disorder. Thus, his seminal discoveries uncovered a pathological mechanism of inflammatory bone resorption in cherubism that occurs predominantly in jaws.

Currently, Dr. Ueki’s specific interest is the signaling pathway and molecular composition of signaling complex mediated by SH3BP2 that regulate immune cell activation leading to inflammatory cytokine production and bone resorption by osteoclasts. His recent work demonstrated that SH3BP2 controls susceptibility to inflammation and bone destruction in mouse models of autoimmune arthritis and that SH3BP2 is a novel key regulator in osteoimmune system. Dr. Ueki believes that further investigation of SH3BP2-mediated signaling pathway will contribute to better molecular understanding and treatment of not only cherubism but also more common inflammatory bone diseases such as rheumatoid arthritis and periodontal disease in which TNF-alpha and osteoclasts are critically involved.

Unravelling the Mysteries of Cherubism                                

Our research featured in Science News in Brief of NIDCR                                                            
Changing the face of cherubism
Shared pathways

Yasuyoshi Ueki, M.D., Ph.D.Associate Professor

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