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Reduces Bone Mass as in Human Apert Syndrome
Author(s) -
Zhou Xia,
Pu Dongquan,
Liu Ri,
Li Xiangjie,
Wen Xiujie,
Zhang Li,
Chen Lin,
Deng Manjing,
Liu Luchuan
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35824
Subject(s) - apert syndrome , osteoclast , osteoblast , fibroblast growth factor receptor 2 , endocrinology , medicine , biology , pathology , chemistry , craniosynostosis , anatomy , biochemistry , fibroblast growth factor , receptor , in vitro
Apert syndrome is a common craniosynostosis caused by gain‐of‐function missense mutations of fibroblast growth factor receptor 2 (FGFR2). Mice with the FGFR2 S252W mutation can elucidate the mechanism by which the human Apert syndrome phenotypes arise. However, many studies have focused on mutant skull and long bone malformation, only few studies have focused on mandible changes. Bone formation and micro‐architecture between 28‐ and 56‐day‐old mutant mice and controls were compared to investigate the changes in the mandibular micro‐architecture caused by the Fgfr2 S252W/+ mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome. Fgfr2 S252W/+ mutant mice were established, and their general characteristics, including weight, naso‐anal length, and calcium and phosphate content in serum and bone were tested. Calcein labeling, tartrate‐resistant acid phosphatase staining and toluidine blue staining were used to detect osteoblast and osteoclast activities. H&E staining and micro‐CT detection were used to test micro‐architecture changes. The changes in mineral apposition rate and micro‐architecture of the Fgfr2 S252W/+ mice were statistically significant; however, the magnitude of the micro‐architecture became less with age. The Fgfr2 S252W/+ mutation may retard mandibular bone formation, decreased bone volume, and compromised skeletal architecture by regulating both osteoblastogenesis and osteoclastogenesis. © 2013 Wiley Periodicals, Inc.