| Project/Area Number |
16H06608
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
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| Project Period (FY) |
2016-08-26 – 2018-03-31
|
| Project Status |
Completed (Fiscal Year 2017)
|
| Budget Amount *help |
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 下垂体機能低下症 / 遺伝 / 転写因子 / 遺伝子 / 小児内分泌学 / 先天性下垂体機能低下症 |
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| Outline of Final Research Achievements |
A PIT1B mutation (PIT1B-T152G) identified in the patients with one dominant inherited family of combined hypopituitarism was investigated to elucidate a pathogenic mechanism. PIT1B-T152G suppressed the PIT1A mRNA expression, whose protein is essential for pituitary hormone production. Instead, PIT1B-T152G induced the own mRNA expression, which is unusual situation because PIT1B is much less expressed the normal condition. Heterologous expression studies of the mutated PIT1B-T152G protein showed modest reductions in its transactivation activities in HeLa cells, while acting as a dominant-negative inhibitor of the endogenous activities of PIT1A in pituitary GH3 cells. These data firstly showed that a PIT1B mutation causes congenital combined hypopituitarism.
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