Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome
| Autor: | Je-Yong Choi, Young-Dan Cho, Hyunjung Kim, Hye-Rim Shin, Kang-Young Choi, Woojin Kim, Hyun-Mo Ryoo, Bongsoo Kim, Heein Yoon |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Premaxilla Science Chondrocyte hypertrophy Vomer Apert syndrome Article Mice 03 medical and health sciences Chondrocytes 0302 clinical medicine Nasal septum medicine Deformity Animals Receptor Fibroblast Growth Factor Type 2 Collagen Type II Nasal Septum Cartilage development Multidisciplinary Disease genetics business.industry Bone development Ethmoid bone Cranial Sutures Hypertrophy X-Ray Microtomography 030206 dentistry Anatomy Acrocephalosyndactylia medicine.disease Disease Models Animal Skull Mechanisms of disease 030104 developmental biology medicine.anatomical_structure Face Mutation Medicine medicine.symptom business |
| Zdroj: | Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated. We studied mice with a chondrocyte-specific Fgfr2S252W mutation (Col2a1-cre; Fgfr2S252W/+) to investigate the effect of cartilaginous components in midface hypoplasia of Apert syndrome. In Col2a1-cre; Fgfr2S252W/+ mice, skull shape was normal at birth, but hypoplastic phenotypes became evident with age. General dimensional changes of mutant mice were comparable with those of mice with mutations in EIIa-cre; Fgfr2S252W/+, a classic model of Apert syndrome in mice. Col2a1-cre; Fgfr2S252W/+ mice showed some unique facial phenotypes, such as elevated nasion, abnormal fusion of the suture between the premaxilla and the vomer, and decreased perpendicular plate of the ethmoid bone volume, which are related to the development of the nasal septal cartilage. Morphological and histological examination revealed that the presence of increased septal chondrocyte hypertrophy and abnormal thickening of nasal septum is causally related to midface deformities in nasal septum-associated structures. Our results suggest that careful examination and surgical correction of the nasal septal cartilage may improve the prognosis in the surgical treatment of midface hypoplasia and respiratory problems in patients with Apert syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink