The role of ROGDI during enamel formation

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K17261
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 57070:Developmental dentistry-related
• Research Institution: The University of Tokushima
• Principal Investigator: MITSUI S. Naomi 徳島大学, 大学院医歯薬学研究部(歯学域), 徳島大学専門研究員 (70786152)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: Amelogenesis imperfecta / Tooth development / Genome editing

Outline of Final Research Achievements

Kohlschutter-Tonz syndrome (KTS) is an autosomal-recessive disorder characterized by epilepsy, psychomotor regression and amelogenesis imperfecta, reported to be caused by mutation of the Rogdi gene. However the role of Rogdi during enamel development is poorly understood. To investigate the role of ROGDI in enamel formation, an animal disease model was created using CRISPR/Cas system. Rogdi deficient mice showed hypocalcified type of amelogenesis imperfecta as reported in patients with KTS. The results suggest that the phenotype is caused by defects in the maturation stage, where the polarization and ameloblast modulation were disturbed. Although bone mineralization defects were not reported in human Rogdi mutations previously, our results suggest that Rogdi plays an important role not only during amelogenesis, but also during bone formation in mice.

Free Research Field

歯科矯正学

Academic Significance and Societal Importance of the Research Achievements

Due to the absence of prior publication regarding Rogdi knockout mice, the obtained results may not only help to elucidate the molecular mechanism involved in amelogenesis imperfect observed in KTS, but also serve as a basis to understand the mechanism of other symptoms present in the disease.