IADR Abstract Archives
Amelogenesis Imperfecta: Tooth Characteristics and Gingival Transcriptome
Objectives: To investigate detailed tooth phenotype and transcriptomic profile of gingival cells in a patient having autosomal-recessive amelogenesis imperfecta (AI)
Methods: An AI tooth obtained from a patient with biallelic FAM20A mutations was subjected to assessments of ultrastructure, mineral content, mineral density, roughness, and hardness, and compared with those of control teeth obtained from healthy individuals. RNA sequencing was performed on the gingival cells of the AI patient and 4 healthy controls.
Results: Ultrastructural analysis revealed severely collapsed enamel rods and disorganized dentin-enamel junction. Additionally, the tooth exhibited decreased phosphorus and increased carbon contents. Decreased enamel mineral density was observed in AI tooth compared with controls. The mRNA expression levels of FAM20A were significantly downregulated in the gingival cells of AI patient compared to control cells. Interestingly, the localization of FAM20A did not exhibit significant differences between AI and control cells. Transcriptional profiling of AI cells revealed the activation of genes associated with positive regulation of transcription, as identified through Gene Ontology (GO) analysis of biological processes. These genes were primarily involved in cell proliferation, biomineralization, and migration.
Conclusions: Our findings demonstrate that FAM20A mutation leads to defects in mineral composition and mechanical properties of AI tooth, along with dysregulated transcriptomic profiles of gingival cells. This study offers valuable insights into the field AI and highlights the importance of FAM20A in tooth development and gingival tissue homeostasis.
Methods: An AI tooth obtained from a patient with biallelic FAM20A mutations was subjected to assessments of ultrastructure, mineral content, mineral density, roughness, and hardness, and compared with those of control teeth obtained from healthy individuals. RNA sequencing was performed on the gingival cells of the AI patient and 4 healthy controls.
Results: Ultrastructural analysis revealed severely collapsed enamel rods and disorganized dentin-enamel junction. Additionally, the tooth exhibited decreased phosphorus and increased carbon contents. Decreased enamel mineral density was observed in AI tooth compared with controls. The mRNA expression levels of FAM20A were significantly downregulated in the gingival cells of AI patient compared to control cells. Interestingly, the localization of FAM20A did not exhibit significant differences between AI and control cells. Transcriptional profiling of AI cells revealed the activation of genes associated with positive regulation of transcription, as identified through Gene Ontology (GO) analysis of biological processes. These genes were primarily involved in cell proliferation, biomineralization, and migration.
Conclusions: Our findings demonstrate that FAM20A mutation leads to defects in mineral composition and mechanical properties of AI tooth, along with dysregulated transcriptomic profiles of gingival cells. This study offers valuable insights into the field AI and highlights the importance of FAM20A in tooth development and gingival tissue homeostasis.