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

FAM83H mutations lead to autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). However, the biological role of FAM83H 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 FAM83H. We showed that FAM83H mutant cells had proliferation ability and morphology similar to the controls. The F-actin staining revealed that FAM83H 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 RUNX2 and ALP was observed in FAM83H mutant cells at day 7 compared with day 3 while their expressions were increased in the controls. The OPN levels in FAM83H 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 FAM83H mutant cells was slightly lower than that of the controls. In conclusion, we identify that FAM83H 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 FAM83H influences osteogenic differentiation across different cell types in oral cavity.