| Project/Area Number |
18K15691
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Aichi Medical University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2022-03-31
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| Project Status |
Discontinued (Fiscal Year 2021)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2021: ¥130,000 (Direct Cost: ¥100,000、Indirect Cost: ¥30,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | MCT8異常症 / reverse T3 / 早期診断 / 遺伝子治療 / Crispr/Cas9 / 甲状腺ホルモン / 輸送膜蛋白 |
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| Outline of Final Research Achievements |
MCT8 deficiency is an abnormality of MCT8, a cell membrane transport protein for thyroid hormones, and presents with the most severe brain disorder, in which the patient is unable to speak or walk. Currently, neither early diagnosis nor treatment has been established, and those based on molecular pathogenesis are needed. The results of the study showed that the rT3 was lower and the rT3/T3 ratio was higher in MCT8 deficient neonates than in normal neonates, without any overlap. In addition, we found that myelination defects occurred in the frontal lobes on brain MRI in MCT8 deficiency. We disseminated our research results by presenting these findings in various papers and at academic conferences. In conducting these studies, we had international collaborations with the University of Chicago, the University of Miami (USA), and the University of Amsterdam (Netherlands).
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| Academic Significance and Societal Importance of the Research Achievements |
本研究で得られたMCT8異常症患児は正常新生児より、重なりを持たずにrT3は低値、rT3/T3比は高値だったという結果から、新生児スクリーニングを行いMCT8異常症患児を早期診断できる可能性が示された。2021年に甲状腺ホルモンアナログであるTriacがMCT8異常症に対し効果があると欧州から報告された。今後、Triacが治療法として確立した際には早期診断したMCT8異常症患児を治療することが可能となる。
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