| Project/Area Number |
23590856
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Legal medicine
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| Research Institution | Kitasato University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
KURIHARA Katsuyoshi 北里大学, 医学部, 教授 (90138123)
FURUKAWA Masataka 北里大学, 医学部, 講師 (90051911)
MURAKAMI Chikako 北里大学, 医学部, 助教 (30433717)
IRIE Wataru 北里大学, 医学部, 助教 (80597352)
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| Co-Investigator(Renkei-kenkyūsha) |
MAEDA Kazuho 北里大学, 医学部, 特任助教 (40724761)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 心筋症 / 拡張型心筋症 / 肥大型心筋症 / 心アンキリン反復タンパク / タイチン / テレトニン / 心臓性突然死 / 遺伝子解析 / 遺伝子診断 / アンキリン反復タンパク |
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| Research Abstract |
Comprehensive screening of ANKRD1 (cardiac ankyrin repeat protein), TCAP (telethonin) and TTN (titin) was performed in consented autopsy cases diagnosed as cardiomyopathies (CMs), in order to evaluate the prevalence of gene mutations in sudden cardiac death caused by CMs. A total of 26 mutations including 3 missense mutations was detected in DCM cases. Our results suggested that the mutations might alter interaction of the Z-disc and N2A components and caused DCM. It was indicated that genetic analysis of these three genes was useful to decide diagnosis of CMs for forensic autopsy cases.
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