A search for known gene mutations in suspected monogenic diabetes.

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09636
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Osaka City General Hospital
• 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)
• 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
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 新生児糖尿病 / MODY / 遺伝子異常 / 個別化医療

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.

Free Research Field

小児代謝内分泌学