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Journal of Dental Research
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Biological

Cystic Fibrosis Transmembrane Regulator Gene (CFTR) is Associated with Abnormal Enamel Formation

C.K. Arquitt1, C. Boyd2 and J.T. Wright2,*

1 Private Practice, Pediatric Dentistry, Nashville, TN; and
2 Department of Pediatric Dentistry, School of Dentistry, Brauer Hall CB #7450, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7450;

Correspondence: * corresponding author, tim_wright{at}dentistry.unc.edu

Cystic fibrosis (CF), a chloride ion transport disorder, is caused by mutations of the cftr gene and is the most common autosomal-recessive heritable disease in Caucasians. CFTR knockout mice have enamel with crystallite defects, retained protein, and hypomineralization, suggesting a role for CFTR in enamel formation and mineralization. This investigation examined CFTR expression and elemental composition in developing murine incisor teeth. RT-PCR showed cftr mRNA expression in the normal mouse apical incisor tissue but not in the CFTR knockout tissue. Elemental analysis by energy-dispersive x-ray spectroscopy showed relatively decreased chloride in secretory-stage CF enamel. Iron and potassium were significantly increased, and calcium was significantly decreased (p value = 0.05) in the CF mature enamel. Abnormal enamel mineralization, ion concentrations, and molecular evidence of cftr mRNA expression by odontogenic cells strongly suggest that CFTR plays an important role in enamel formation.

Key Words: amelogenesis • enamel • cystic fibrosis • ion • chloride • bicarbonate

Journal of Dental Research, Vol. 81, No. 7, 492-496 (2002)
DOI: 10.1177/154405910208100712
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