| 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
|
| Project Status |
Completed (Fiscal Year 2019)
|
| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
|
|---|
| Keywords | Amelogenesis imperfecta / Tooth development / Genome editing / 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.
|
| 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.
|
