2013 Fiscal Year Final Research Report
Mutational analysis of the disease causing genes in sudden cardiac death diagnosed as cardiomyopathy
| 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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| 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 |
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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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[Presentation] 心筋症の遺伝子解析XIII-筋LIM蛋白遺伝子の変異解析-2012
Author(s)
村上千香子,前田一輔,入江渉,渡邊利真,大石桃子,佐々木千寿子,中丸尚美,古川理孝,中村茂基,栗原克由
Organizer
日本DNA多型学会第21回学術集会
Place of Presentation
京都教育文化センター(京都市,左京区)
Year and Date
2012-11-08
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