2017 Fiscal Year Final Research Report
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)
|
Research Collaborator |
TSUJI Atsumi (HOSOKAWA Atsumi)
KASHIMADA Kenichi
|
Project Period (FY) |
2015-04-01 – 2018-03-31
|
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 |
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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Free Research Field |
小児内分泌学
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