Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261GT mutation

摘要

mutations lead to autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). However, the biological role of remains unclear. The present study aimed to characterize the alveolar bone cells isolated from a patient with ADHCAI having the mutation, c.1261G > T, p.E421*, in . We showed that mutant cells had proliferation ability and morphology similar to the controls. The F-actin staining revealed that mutant cells were remained in the earlier stages of cell spreading compared to the controls at 30 min, but their spreading was advanced comparable to the controls at later stages. After osteogenic induction, a significant decrease in mRNA levels of and was observed in mutant cells at day 7 compared with day 3 while their expressions were increased in the controls. The levels in mutant cells were not significantly changed at day 7 compared to day 3 while the controls showed a significant increase. After 14 days, the mineral deposition of mutant cells was slightly lower than that of the controls. In conclusion, we identify that bone cells have lower expression of osteogenic marker genes and mineralization while they maintain their morphology, proliferation, and spreading. Consistent with previous studies in the ameloblasts and periodontal ligamental cells, these evidences propose that influences osteogenic differentiation across different cell types in oral cavity.