| Project/Area Number |
15K09613
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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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| Research Field |
Pediatrics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Sato Naoko 東京大学, 医学部附属病院, 登録研究員 (10383069)
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| Co-Investigator(Kenkyū-buntansha) |
瀬尾 美鈴 京都産業大学, 総合生命科学部, 教授 (60211223)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 中枢性性腺機能低下症 / 糖脂質代謝異常 / 遺伝子解析 |
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| Outline of Final Research Achievements |
FGF-FGFR1 genetic network (FFN)’s gene mutations account for 30% of the etiology of hypogonadotropic hypogonadism (HH). Recently, it was reported that HH with FGF ligand of FFN’s gene mutations was accompanied by glycolipid metabolism. Additionally, we identified a mutation of gene A in HH patients with diabetes mellitus. Thus, we performed a gene mutation analysis for the purpose of clarifying new disease establishment mechanism of HH and glycolipid metabolism in 50 HH and identified mutations in both gene A and KLB in HH with severe obesity and/or diabetes mellitus. The results suggest that both gene A and KLB play an essential role in glycolipid metabolism with reproduction.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の研究により、糖・脂質代謝異常症を伴うHH の責任遺伝子が同定されたことにより、視床下部－下垂体－性腺軸において、糖・脂質代謝とGnRH 分泌調節機構に関与するメカニズムが解明される糸口となり、糖・脂質代謝異常症およびHH の新規疾患成立機序の発見に繋がると考えられる。さらに、社会的な意義として、HHと糖脂質代謝異常に関する遺伝子診断により、適切な時期に糖尿病、脂質異常症、肥満の治療が開始され、代謝疾患の悪化を防ぎ、患者のQOL を向上させることが可能となる。
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