| Project/Area Number |
22K07025
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 49030:Experimental pathology-related
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| Research Institution | Kyushu University |
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Principal Investigator |
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| Project Period (FY) |
2022-04-01 – 2025-03-31
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| Project Status |
Granted (Fiscal Year 2023)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2024: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2023: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2022: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | Anti-oxidant / Facial malformation / Zebrafish / Rare disease / Cell / omics |
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| Outline of Research at the Start |
Treacher Collins syndrome (TCS) affects facial appearance and causes significant morbidity in facial form and function. It is necessary to identify the origin of the disease and the mechanisms mediating disease pathogenesis in order to treat the disease during the early developmental stages. The current hypothesis of applying the anti-oxidant during the embryo development may rescue the facial malformation, and we aim to unfold the molecular mechanism of such hypothesis in the TCS zebrafish model.
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| Outline of Annual Research Achievements |
The project applied the polr1c zebrafish mutant to study the Tracher Collins syndrome (TCS). Excessive reactive oxidative species and upregulated p53 signaling pathways were found in the relative mutant. In the past year, we have started to test a few chemicals for the rescue experiments. Besides, we started to explore another craniofacial disease, Nager syndrome that shares the similar phenotype as TCS. We reported the mutation in sf3b4 will result in eye diseases (Ulhaq et al. 2023 b, d). Besides, we also demonstrated the important development role of cpt1 in embryogenesis (Ulhaq et al. 2023 a). Lastly, we applied our knowledge from the study and reported the developmental toxicity of an environmental pollutant PFHxS (Ulhaq and Tse 2023 a, b; Ulhaq et al. 2023 c).
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| Current Status of Research Progress |
Current Status of Research Progress
1: Research has progressed more than it was originally planned.
Reason
We have explored several different diseases that show similar facial phenotype as TCS. We are identifying the pathogenesis of these diseases. Regarding the anti-oxidant treatment for TCS, we have finished the scheduled experiments, and will report the result in the international peer-review journal. In this year we have published SIX SCI papers. The remaining experiments are on-going smoothly. We are expecting to have the final result by the end of the project.
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| Strategy for Future Research Activity |
The research will be performed as scheduled. The resecure experiments of the selected chemicals will be completed, in which their relative molecular mechanism will be unfolded at the same time.
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