Reports outline dentistry study findings from University Medical Center
2007 AUG 28 -- Current study results from the report, "A mutation in the enamelin gene in a mouse model," have been published. "Amelogenesis imperfecta is an inherited disorder affecting tooth enamel formation. We previously isolated a mouse strain with an amelogenesis imperfecta phenotype (ATE1 mice) from a dominant ethylnitrosourea screen and mapped the disease-causing defect to a 9-cM region of mouse chromosome 5," investigators in Hamburg, Germany report. "In the current study, we tested the hypothesis that there is a mutation in enamelin (ENAM) or ameloblastin (AMBN), both of which are located within the linkage region, by sequencing these two candidate genes. Analysis of our data shows that the amelogenesis imperfecta phenotype is linked to a C>T transition in exon 8 of the enamelin gene. The mutation predicts a C826T transition, which is present in the enamelin transcript and changes the glutamine (Gln) codon at position 176 into a premature stop codon (Gln176X). Conversely, no mutation could be detected in the ameloblastin gene," wrote H. Seedorf and colleagues, University Medical Center. The researchers concluded: "These results define the ATE1 mice as a model for local hypoplastic autosomal-dominant amelogenesis imperfecta (AIH2), which is caused by enamelin truncation mutations in humans." Seedorf and colleagues published their study in the Journal of Dental Research (A mutation in the enamelin gene in a mouse model. Journal of Dental Research, 2007;86(8):764-8). For additional information, contact H. Seedorf, University Medical Center, Dept. of Prosthetic Dentistry, Hamburg-Eppendorf, Martinistr 52, D-20246 Hamburg, Germany. The publisher of the Journal of Dental Research can be contacted at: International American Association Dental Researchi a D R, a a D R, 1619 Duke St., Alexandria, VA 22314-3406, USA. Keywords: Germany, Hamburg, Dentistry. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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