Microbe-Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice.

ABSTRACT: Cherubism (OMIM#118400) is a craniofacial disorder characterized by destructive jaw expansion. Gain-of-function mutations in SH3-domain binding protein 2 (SH3BP2) are responsible for this rare disorder. We have previously shown that homozygous knock-in (KI) mice (Sh3bp2 ^KI/KI ) recapitulate human cherubism by developing inflammatory lesions in the jaw. However, it remains unknown why heterozygous KI mice (Sh3bp2 ^KI/+ ) do not recapitulate the excessive jawbone destruction in human cherubism, even though all mutations are heterozygous in humans. We hypothesized that Sh3bp2 ^KI/+ mice need to be challenged for developing exacerbated jawbone destruction and that bacterial stimulation in the oral cavity may be involved i

SUBMITTER: Kittaka M 

PROVIDER: S-EPMC7285758 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature