2011 Fiscal Year Final Research Report
The study of mechanism and approach to treatment for the hyper-ammonemia in the glutamate dehydrogenase abnormality
| Project/Area Number |
21591332
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Osaka City University |
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Principal Investigator |
OKANO Yoshiyuki 大阪市立大学, 大学院・医学研究科, 講師 (60231213)
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| Co-Investigator(Renkei-kenkyūsha) |
MORITA Takashi 大阪市立大学, 大学院・医学研究科, 教授 (70150349)
KOBAYASHI Keiko 鹿児島大学, 医歯学総合研究科, 准教授 (70108869)
SAHEKI Takeyori 熊本大学, 生命資源研究・支援センター, 特任教授 (10056070)
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| Research Collaborator |
KAWAJIRI Mie 大阪市立大学, 大学院・医学研究科, 研究医
ASOU Kazuyoshi 大阪市立大学, 大学院・医学研究科, 大学院生
TSURUHARA Akifumi 大阪市立大学, 大学院・医学研究科, 大学院生
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| Project Period (FY) |
2009 – 2011
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| Keywords | 分子遺伝学 |
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| Research Abstract |
Hyperinsulinism hyperammonemia causes dysregulation of GDH activity due to have severe insensitivity for GTP inhibition, and mediate the unregulated insulin secretion. We made a transgenic mouse for elucidation of mechanism of hyperammonemia and development of a therapy. Metabolom analysis in liver, heart, kidney, and brain indicated the enhancement of fatty acid metabolism and decreased synthesis of α-oxoglutarate in liver. As onset mechanism of hyperammonemia, there is not decrease of N-acetylglutamate, and carbamoyl phosphate synthetase activity may not decrease. The new Japanese patients have been diagnosed with GDH analysis.
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