Ameloblastin gene (AMBN) mutations associated with epithelial odontogenic tumors.

Abstract

Ameloblastin (AMBN, MIM *601259) gene expresses an important protein (AMBN), present in the organic matrix of enamel. The AMBN protein has an important role in the differentiation of ameloblast cells and epithelium-mesenchyme signaling during odontogenesis which prompted us to investigate this gene in aggressive epithelial odontogenic tumors, such as ameloblastomas, and in some non-aggressive ones, such as the adenomatoid odontogenic tumor and the squamous odontogenic tumor. Six cases of epithelial odontogenic tumors were studied and normal cells of the patient's mucosa were used as negative controls. The results demonstrated novel mutations in all tumors, while mucosal cells showed the wild type DNA sequence. Our data demonstrates that AMBN gene has an important role in the tumorigenesis of subtypes of epithelial odontogenic tumors and that this phenotypic heterogeneity could be caused by genetic heterogeneity.

• Authors: P F Perdigão, R S Gomez, F J G S Pimenta, L De Marco
• Journal: Oral oncology (Oral Oncol) Vol. 40 Issue 8 Pg. 841-6 (Sep 2004) ISSN: 1368-8375 [Print] England
• PMID: 15288841 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• AMBN protein, human
• Dental Enamel Proteins

Topics

• Ameloblastoma (genetics, pathology)
• Base Sequence
• Dental Enamel Proteins (genetics)
• Epithelial Cells (pathology)
• Exons (genetics)
• Humans
• Molecular Sequence Data
• Mouth Mucosa (pathology)
• Mouth Neoplasms (genetics, pathology)
• Mutation
• Odontogenic Tumors (genetics, pathology)