Maldevelopment of the submandibular gland in a mouse model of apert syndrome.

Autor: Yamaji K; Division of Orofacial Functions and Orthodontics, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Morita J; Division of Orofacial Functions and Orthodontics, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Watanabe T; Division of Orofacial Functions and Orthodontics, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Gunjigake K; Division of Orofacial Functions and Orthodontics, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Nakatomi M; Division of Anatomy, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Shiga M; Division of Orofacial Functions and Orthodontics, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Ono K; Division of Physiology, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan., Moriyama K; Division of Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Kawamoto T; Division of Orofacial Functions and Orthodontics, Department of Health Improvement, Faculty of Dentistry, Kyushu Dental University, Fukuoka, Japan.
Jazyk: angličtina
Zdroj: Developmental dynamics : an official publication of the American Association of Anatomists [Dev Dyn] 2018 Nov; Vol. 247 (11), pp. 1175-1185. Date of Electronic Publication: 2018 Nov 10.
DOI: 10.1002/dvdy.24673
Abstrakt: Background: Apert syndrome is characterized by craniosynostosis and bony syndactyly of the hands and feet. The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). Clinical experience suggests increased production of saliva by Apert syndrome patients, but this has not been formally investigated. FGFR2 signaling is known to regulate branching morphogenesis of the submandibular glands (SMGs). With the Apert syndrome mouse model (Ap mouse), we investigated the role of FGFR2 in SMGs and analyzed the SMG pathology of Apert syndrome.
Results: Ap mice demonstrated significantly greater SMG and sublingual gland (SMG/SLG complex) mass/body weight and percentage of parenchyma per unit area of the SMG compared with control mice. Furthermore, gene expression of Fgf1, Fgf2, Fgf3, Pdgfra, Pdgfrb, Mmp2, Bmp4, Lama5, Etv5, and Dusp6 was significantly higher in the SMG/SLG complex of Ap mice. FGF3 and BMP4 exhibited altered detection patterns. The numbers of macrophages were significantly greater in SMGs of Ap mice than in controls. Regarding functional evaluations of the salivary glands, no significant differences were observed.
Conclusions: These results suggest that the gain-of-function mutation in FGFR2 in the SMGs of Ap mice enhances branching morphogenesis. Developmental Dynamics 247:1175-1185, 2018. © 2018 Wiley Periodicals, Inc.
(© 2018 Wiley Periodicals, Inc.)
Databáze: MEDLINE
Externí odkaz: