Clarification of genetic and pathogenic mechanism of insulin receptor abnormality
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 |
Research Field |
Pediatrics
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Research Institution | Tokyo Medical and Dental University |
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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Report
(4 results)
Research Products
(6 results)
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[Journal Article] Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.2017
Author(s)
Tsuji-Hosokawa, A., Takasawa, K., Nomura, R., Miyakawa, Y., Numakura, C., Hijikata, A., Shirai, T., Ogawa, Y., Kashimada, K. & Morio, T.
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Journal Title
Pediatr Diabetes
Volume: Feb 9
Issue: 8
Pages: 917-924
DOI
Related Report
Peer Reviewed
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[Presentation] IGF1製剤が有効であった妖精症の1例2015
Author(s)
高澤啓, 酢谷明人, 前澤身江子, 石黒利佳, 箕面崎至宏, 鹿島田健一
Organizer
第88回日本内分泌学会学術総会
Place of Presentation
ホテルニューオータニ東京(東京・千代田区)
Year and Date
2015-04-23
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