Functional analysis using iPS cells for novel HCN2 mutation found in febrile seizure patients.
| Project/Area Number |
24791096
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Fukuoka University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | イオンチャネル / パッチクランプ / 電気生理 / 熱性けいれん / 遺伝子変異 / 過分極活性型環状ヌクレオチド依存性チャネル / iPS細胞 / 小児科 / 変異 / 遺伝子 / 神経科学 / 小児科学 |
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| Outline of Final Research Achievements |
Novel HCN2 mutation (S126L) found in Febrile Seizure patients was transfected to iPS cells and cultured neurons. The function of HCN mutant protein was examined by using the patch clamp method. The conductance in rat CA1 neurons transfected mutant HCN2 was increased and the distribution of the channel protein showed migration to the cell membrane in PC12 cells. These results of the neuronal cells' experiment was similar to that of the cultured cells' experiment.
These results suggest that animals with this HCN2 mutation might have the possibility of causing Febrile Seizure. And these results might help to elucidate the mechanism of Febrile Seizure.
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Report
(4 results)
Research Products
(13 results)
