• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.4
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• pp.467-471
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• 2010

Amelogenesis imperfecta, one of the dental genetic disease, is clinically and genetically complex disease. Amelogenesis imperfecta can be classified into three major categories according to clinical phenotype; hypoplastic, hypomaturation, and hypocalcification. Recently a novel gene, Fam83h, was identified to cause autosomal dominant hypocalcification amelogenesis imperfecta, however its functional role in the pathogenesis of enamel defect is not known yet. So this study was aimed to identify the knockdown effect of Fam83h gene on the amelogenin mRNA expression via shRNA transfection into immortalized ameloblast cell line. The result showed that the knockdown of Fam83h did not influence the amelogenin expression. Further study of the functional role of Fam83h gene should be performed to understand the complex nature of amelogenesis as well as molecular pathogenesis of amelogenesis imperfecta.