2011 Fiscal Year Final Research Report
Mutations in cardiac gap junction genes and the pathophysiology underlying progressive cardiac conduction defect.
| Project/Area Number |
21590921
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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 |
Circulatory organs internal medicine
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| Research Institution | Nagasaki University |
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Principal Investigator |
MAKITA Naomasa 長崎大学, 大学院・医歯薬学総合研究科, 教授 (00312356)
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| Co-Investigator(Kenkyū-buntansha) |
SEKI Akiko 東京女子医科大学, 医学部, 助教 (80408608)
SUMITOMO Naokata 日本大学, 医学部, 准教授 (50231379)
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| Project Period (FY) |
2009 – 2011
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| Keywords | ギャップジャンクション / 致死性不整脈 / 心臓伝導障害 / 遺伝子 |
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| Research Abstract |
To elucidate the pathophysiology underlying the progressive cardiac conduction defect(PCCD), PCCD family members were registered, and the clinical features were analyzed. Genetic screening revealed a novel mutation in a gene encoding connexin40(Cx40). The mutant Cx40 showed reduced single channel conductance and impaired plaque formation at the plasma membrane. These data demonstrates that the abnormal cell-cell coupling at the cardiac conduction system is a novel pathophysiology underlying PCCD.
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