A search for known gene mutations in suspected monogenic diabetes.
| Project/Area Number |
15K09636
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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 | Osaka City General Hospital |
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Principal Investigator |
Yorifuji Tohru 地方独立行政法人大阪市民病院機構大阪市立総合医療センター(臨床研究センター), 臨床研究センター, 部長 (60220779)
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| Research Collaborator |
Hosokawa Yuki 大阪市立総合医療センター, 小児代謝・内分泌内科, 医員
Kawakita Rie 大阪市立総合医療センター, 小児代謝・内分泌内科, 医員
Hashimoto Yukiko 大阪市立総合医療センター, 小児代謝・内分泌内科, 医員
Sakakibara Azumi 大阪市立総合医療センター, 小児代謝・内分泌内科, 医員
Higuchi Shinji 大阪市立総合医療センター, 小児代謝・内分泌内科, 医員
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 新生児糖尿病 / MODY / 遺伝子異常 / 個別化医療 / 糖尿病 / 遺伝子 / 新生児 |
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| Outline of Final Research Achievements |
We screened for mutations in the known causative genes in 70 Japanese patients with neonatal diabetes and in 213 with MODY-like diabetes. Mutations in the KATP-channel genes were identified in 25 with neonatal diabetes. Sulfonylurea treatment was efficacious in 15 out of 17 patients, and 14 of them could be switched from insulin to sulfonylurea. In 5 of them, neurological improvement was also demonstrated. Among 103 families with MODY, mutations in the major MODY genes were identified in 103. We also identified chromosome 6q24 abnormality as a novel etiology of MODY-like diabetes. Those without mutations in the known genes showed characteristics of early-onset type 2 diabetes. Interestingly, the inheritance was maternal dominant. Non-Mendelian inheritance should be considered as a cause of unknown MODY-like diabetes.
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Report
(4 results)
Research Products
(33 results)
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[Journal Article] Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan2016
Author(s)
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
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Journal Title
Pediatric Diabetes
Volume: ―
Issue: 7
Pages: 532-539
DOI
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Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age2016
Author(s)
Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT)
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Journal Title
Clinical Pediatric Endocrinology
Volume: 25
Issue: 3
Pages: 99-102
DOI
NAID
ISSN
0918-5739, 1347-7358
Related Report
Peer Reviewed / Open Access
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[Journal Article] Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies.2015
Author(s)
Heneberg P, Malá M, Yorifuji T, Gat-Yablonski G, Lebenthal Y, Tajima T, Nogaroto V, Rypáčková B, Kocková L, Urbanová J, Anděl M.
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Journal Title
Int Arch Allergy Immunol.
Volume: 166
Issue: 3
Pages: 189-198
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging.2015
Author(s)
Hashimoto Y, Sakakibara A, Kawakita R, Hosokawa Y, Fujimaru R, Nakamura T, Fukushima H, Igarashi A, Masue M, Nishibori H, Tamagawa N, Murakami A, Hatake K, Yorifuji T.
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Journal Title
Int J Pediatr Endocrinol.
Volume: 2015
Issue: 1
Pages: 20-20
DOI
Related Report
Peer Reviewed
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[Journal Article] Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.2014
Author(s)
Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M.
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Journal Title
Diabet Med.
Volume: ?
Issue: 7
Pages: 963-967
DOI
Related Report
Peer Reviewed
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[Presentation] 6q24関連糖尿病:低出生体重歴のあるMODY型非肥満糖尿病の主要な原因2016
Author(s)
依藤亨, 松原圭子, 榊原杏美, 橋本有紀子, 川北理恵, 細川悠紀, 藤丸季可, 井澤雅子, 鈴木潤一, 浦上達彦, 田中大祐, 稲垣暢也, 鏡雅代
Organizer
第89回日本内分泌学会
Place of Presentation
京都
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