| Project/Area Number |
18K07867
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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 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2024-03-31
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| Project Status |
Completed (Fiscal Year 2023)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 新生児糖尿病 / 単一遺伝子糖尿病 / 分子基盤 / 遺伝子 / 血糖コントロール指標 |
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| Outline of Final Research Achievements |
Neonatal Diabetes Mellitus (NDM) is a rare disease that manifests within the first six months of life, predominantly due to genetic factors. This study comprehensively analyzed the genetic background of Japanese patients with NDM, elucidating the clinical features associated with each genetic cause. We found a high frequency of cases where excellent glycemic control could be achieved by switching from insulin injections to oral medications. Additionally, we identified distinguishing factors between transient hyperglycemia in premature infants not caused by genetic factors and NDM. Based on these findings, we proposed a genetic diagnostic algorithm for NDM.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究は、日本人新生児糖尿病（NDM）の遺伝的背景と臨床像を明らかにし、精密医療の実践へ貢献する重要な成果をもたらしました。遺伝子解析により、NDMの原因遺伝子を特定し、遺伝子型と表現型の関連性を解明しました。これにより、インスリン分泌機構の理解が深まり、他の人種との比較研究や糖尿病全般への応用の可能性が広がります。診断アルゴリズムの提唱により早期診断と適切な治療が可能となり、患者の生活の質を向上させると共に、医療資源の有効活用にも寄与します。
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