Abstract
Patients with inherited proximal renal tubular acidosis (pRTA) have a systemic metabolic acidosis and may have in addition extra‐renal manifestations (bone growth delays, ocular defects). Amelogenesis imperfecta (AI) is a group of diverse inherited disorders caused by mutations affecting the secreted enamel‐specific proteins but are not usually associated with other diseases. Recent case reports of patients with pRTA who have mutations in the SLC4A4 gene encoding NBCe1 described enamel defects as part of the constellation of extra‐renal findings. We have recently provided the first evidence that NBCe1 is expressed in polarized rodent dental enamel cells (ameloblasts) suggesting that NBCe1 plays an essential role in enamel formation. Mice with a targeted disruption of the Slc4a4 gene and ablation of NBCe1 protein expression are a good model for studying the role of NBCe1 in enamel formation. We present ultrastructural and mechanical data for the dental hard tissues in NBCe1−/− animals. These animals show hypoplastic enamel with severely disorganized prismatic structure similar to that described for AI, which suggests that abnormal pH homeostasis in the developing enamel results in a disruption of enamel crystallite formation creating structurally weak enamel. Normal ameloblast bicarbonate transport/pH regulation is thus required for proper enamel formation.
Published Version
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