| Project/Area Number |
21591051
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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 |
Kidney internal medicine
|
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| Research Institution | The University of Tokyo |
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Principal Investigator |
SEKI George 東京大学, 医学部附属病院, 講師 (30206619)
|
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| Co-Investigator(Kenkyū-buntansha) |
YAMADA Hideomi 東京大学, 医学部附属病院, 助教 (60396752)
HORITA Shoko 東京大学, 医学部附属病院, 助教 (20534895)
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| Project Period (FY) |
2009 – 2011
|
| Project Status |
Completed (Fiscal Year 2011)
|
| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
|
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| Keywords | 近位尿細管性アシドーシス / NBCe1 / 近位尿細管アシドーシス / W516Xノックインマウス / PTC124 / NBC1 |
|---|
| Research Abstract |
Hereditary proximal renal tubular acidosis by NBCe1 mutations is a difficult-to-treat disease with severe acidemia, ocular abnormalities, and stunted growth. Because a premature stop-codon NBCe1 mutation W516X was recently identified, we produced mice carrying this mutation. W516X knock-in homo mice showed severe acidemia, ocular abnormalities, and stunted growth like human patients. They may be useful for the evaluation of new molecular therapy for proximal renal tubular acidosis. We also found that defective membrane expression of NBCe1 is associated with migraine.
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