Amelogenesis imperfecta and WDR72 : a causative factor in abnormal tooth formation
Date
2015
DOI
Authors
Al-Jamaan, Reem
Version
OA Version
Citation
Abstract
Objective: Patients with Amelogenesis lmperfecta (AI) caused by WDR72 mutation display several dental phenotypes including enamel hypomaturation. The present study demonstrates a preliminary step to try and establish a role of WDR72 in Amelogenesis Imperfecta (AI). A rat model of Wdr72 AI was established to characterize the tooth phenotypes. The purpose of the study Wdr72 rat model and its comparable Wdr72 wild type rat using micro computed tomography (m-CT) analysis.
Methods: the Wdr72-Al rat model was generated by mean of zinc-finger nuclease-based technology, engineered DNA-binding proteins which edit the genome by creating breaks in DNA, thus disrupting the rat Wdr72 gene. Micro-computed tomography scans of Wdr72-AI rat heads, both wild type (WT) and knock out (KO) were performed.
Results: The dental phenotypes of homozygous Wdr72 KO rat were compared with those of WT. Upper and lower in KO rats showed defective enamel morphology compared to those in the WT. The comparative m-CTscans showed the hypomature enamel phenotype in the KO models in comparison to the WT models.
Conclusion: The Wdr72-Al KO animal model’s incisors exhibited the dental phenotypes, which are characteristic of the AI affected patients when compared to the WT animals. Further studies are needed to affirm the m-CT experiments and results.
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Thesis (MSD) --Boston University, Henry M. Goldman School of Dental Medicine, 2015 (Department of Periodontology).
Includes bibliographic references: leaves 33-37.
Thesis (MSD) --Boston University, Henry M. Goldman School of Dental Medicine, 2015 (Department of Periodontology).
Includes bibliographic references: leaves 33-37.
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This work is protected by copyright. Downloading is restricted to the BU community. If you are the author of this work and would like to make it publicly available, please contact open-help@bu.edu.