| Budget Amount *help |
¥16,250,000 (Direct Cost: ¥12,500,000、Indirect Cost: ¥3,750,000)
Fiscal Year 2016: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2015: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
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| 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.
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