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2014 Fiscal Year Final Research Report

Functional analysis using iPS cells for novel HCN2 mutation found in febrile seizure patients.

Research Project

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Project/Area Number 24791096
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionFukuoka University

Principal Investigator

NAKAMURA Yuki  福岡大学, 医学部, 助手 (90535072)

Project Period (FY) 2012-04-01 – 2015-03-31
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
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.

Free Research Field

パッチクランプ法を用いたイオンチャネル電流の測定ならびに電気生理学的解析

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Published: 2016-06-03  

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