| Project/Area Number |
15K19602
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
TAKASAWA Kei 東京医科歯科大学, 大学院医歯学総合研究科, 助教 (50749463)
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| Research Collaborator |
TSUJI Atsumi (HOSOKAWA Atsumi)
KASHIMADA Kenichi
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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 |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | インスリン受容体 / 糖尿病 / インスリン抵抗性 / インスリン受容体異常症 / 妖精症 / Ａ型インスリン抵抗症 / SGA / A型インスリン抵抗症 |
|---|
| Outline of Final Research Achievements |
We reported seven Japanese cases with clinically diagnosed insulin receptor (INSR) abnormality including one case with Leprechaunism and six peripubertal cases with clinically diagnosed type A IR. In five of seven cases, five INSR mutations including three novel mutations; S98R, G1146R, R1201P, and two previously reported mutations; R1158W, R1201W, were identified. We also demonstrated that reduced mRNA expression of INSR should be considered as a possible cause of insulin resistance. By a group comparative study between INSR mutation-positive and mutation-negative cases, we indicated common clinical features of type A insulin resistance with the INSR mutations which were family history of diabetes mellitus and absence of fatty liver. Furthermore, being small for gestational age is another clinical feature of type A insulin resistance with the INSR mutation.
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