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Publication : Cystic fibrosis transmembrane regulator gene (CFTR) is associated with abnormal enamel formation.

First Author  Arquitt CK Year  2002
Journal  J Dent Res Volume  81
Issue  7 Pages  492-6
PubMed ID  12161463 Mgi Jnum  J:105940
Mgi Id  MGI:3617049 Doi  10.1177/154405910208100712
Citation  Arquitt CK, et al. (2002) Cystic fibrosis transmembrane regulator gene (CFTR) is associated with abnormal enamel formation. J Dent Res 81(7):492-6
abstractText  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.
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