Characterization of impaired regulatory system of insulin synthesis and secretion in MODY.

2016 Fiscal Year Final Research Report

• Project/Area Number: 26293246
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: Takeda Jun 岐阜大学, 医学(系)研究科(研究院), 教授 (40270855)
• Co-Investigator(Kenkyū-buntansha): 堀川 幸男 岐阜大学, 医学部附属病院, 准教授 (10323370) ; 飯塚 勝美 岐阜大学, 医学部附属病院, 講師 (40431712)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: メンデル遺伝 / インスリン分泌不全 / 分子遺伝学 / 若年糖尿病 / 膵ベータ細胞

Outline of Final Research Achievements

Type 2 diabetes is characterized primarily by insulin deficiency. Their genetic studies have been hampered by its complex mode of inheritance. In this context, we examined a monogenic form of diabetes, maturity-onset diabetes of the young (MODY). Screening of the MODY cohort for mutations resulted in the identification of higher prevalence of MODY2 than estimated and the first cases of MODY6 in Japanese. They might have been overlooked by low penetrance of the phenotypes, suggesting that MODYs are oligogenic rather than monogenic. In order to identify compensatory factors in the state of insulin deficiency, we screened transcriptome databeses for pancreatic islet-specific transcripts, resulting in the identification of over 100 expressed genes. Then, using various kinds of algorithm, we could select candidates closely related to the MODY pathways. Further examination of their functions will lead to the better understanding of compensatory mechanism of insulin deficiency in MODY.

Free Research Field

分子糖尿病学