Elucidation of causal genes of monogenic diabetes and it applies to the medical treatment

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K09842
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Metabolomics
• Research Institution: Wakayama Medical University
• Principal Investigator: Furuta Hiroto 和歌山県立医科大学, 医学部, 准教授 (90238684)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 糖尿病 / 遺伝因子 / インスリン遺伝子 / ABCC８遺伝子 / 高インスリン血症性新生児低血糖症

Outline of Final Research Achievements

We searched for the causative gene using a new method such as whole exome sequence analysis in a diabetic family with suspected single gene abnormality as the cause of diabetes. We reported that the mutation in the intron is also important as a cause in the insulin gene. Moreover, we reported that in the ABCC8 gene, in addition to activation mutations, inactivation mutations that are known to cause hypoglycemia due to hypersecretion of insulin are also important for the cause of diabetes.

Free Research Field

代謝内分泌学

Academic Significance and Societal Importance of the Research Achievements

糖尿病の発症には過食や運動不足といった環境因子に加え遺伝因子が深く関係している。今回得られた、原因遺伝子の探索においてはイントロン内の変異によるスプライシング異常もまた重要であることや低血糖症から糖尿病に移行する遺伝子変異が存在することなどの知見は、糖尿病の病態解明の一助になるものと考えている。