Genetic analysis of sarcmere in left ventricular noncompaction
| Project/Area Number |
24591571
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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 |
Pediatrics
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| Research Institution | University of Toyama |
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Principal Investigator |
ICHIDA Fukiko 富山大学, 大学院医学薬学研究部(医学), 准教授 (30223100)
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| Co-Investigator(Kenkyū-buntansha) |
OZAWA Sayaka 富山大学, 大学病院, 診療助手 (40596540)
SAITO Kazuyoshi 富山大学, 大学病院, 助教 (30566097)
HATA Yukiko 富山大学, 大学院医学薬学研究部(医学), 助教 (30311674)
NISHIDA Nnaoki 富山大学, 大学院医学薬学研究部(医学), 教授 (10315088)
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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 |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 心筋症 / 遺伝子異常 / サルコメア遺伝子 / 心筋発達 / 心筋緻密化障害 / 遺伝子解析 / サルコメア / 遺伝子 / 循環器 |
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| Outline of Final Research Achievements |
We investigated 80 Japanese patients with a clinical diagnosis of LVNC, and identified 27 sarcomeric gene mutations in 25 patients (28%). MYH7 and MYBPC3 were the most prevalent disease genes and accounts for 75% of cases with mutation. Of note, 3 infantile cases and 2 juvenile cases were compound or double heterozygotes for 2 different mutations, and showed the most severe phenotypes including heart transplantation, death or cardiopulmonary arrest. Patients with single mutations in TPM1 and ACTC1 showed similar poor prognosis. Comparing sarcomere mutation-positive and mutation-negative LVNC probands showed no significant differences with respect to clinical characteristics at baseline and mortality during follow up. Mutations in sarcomere genes account for a significant proportion of cases of LVNC in this cohort. The presence of a mutation in TPM1 or ACTC1, or compound heterozygosity for mutations in other sarcomere genes in LVNC are associated with the most severe clinical phenotype.
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Report
(4 results)
Research Products
(46 results)
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[Journal Article] A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.2014
Author(s)
Kinoshita K, Komatsu T, Nishide K, Hata Y, Hisajima N, Takahashi H, Kimoto K, Aonuma K, Tushima E, Tabata T, Yoshida T, Mori H, Nishida K, Yamaguchi Y, Ichida F, Fukurotani K, Inoue H, Nishida N.
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Journal Title
J Mol Cell Cardiol
Volume: 72
Pages: 273-280
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Circumstances and outcomes of out-of-hospital cardiac arrest in elementary and middle school students in the era of public-access defibrillation.2014
Author(s)
Mitani Y, Ohta K, Ichida F, Nii M, Arakaki Y, Ushinohama H, Takahashi T, Ohashi H, Yodoya N, Fujii E, Ishikura K, Tateno S, Sato S, Suzuki T, Higaki T, Iwamoto M, Yoshinaga M, Nagashima M, Sumitomo N.
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Journal Title
Circ J.
Volume: 78
Pages: 701-707
Related Report
Peer Reviewed
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[Journal Article] Glycine/Serine polymorphism at position 38 influences KCNE1 subunit's modulatory actions on rapid and slow delayed rectifier K+ currents.2014
Author(s)
Yamaguchi Y, Nishide K, Kato M, Hata Y, Mizumaki K, Kinoshita K, Nonobe Y, Tabata T, Sakamoto T, Kataoka N, Nakatani Y, Ichida F, Mori H, Fukurotani K, Inoue H, Nishida N.
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Journal Title
Circ J.
Volume: 78
Pages: 610-618
NAID
Related Report
Peer Reviewed
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[Journal Article] Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death2014
Author(s)
Yukiko Hata, Hisashi Mori, Ayumi Tanaka, Yosuke Fujita, Takeshi Shimomura, Toshihide Tabata, Koshi Kinoshita, Yoshiaki Yamaguchi, Fukiko Ichida, Yoshihiko Kominato, Noriaki Ikeda, Naoki Nishida
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Journal Title
International Journal of Legal Medicine
Volume: 128
Issue: 1
Pages: 105-115
DOI
Related Report
Peer Reviewed
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[Journal Article] 14-3-3ε gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum.2013
Author(s)
Chang B, Gorbea C, Lezin G, Li L, Shan L, Sakai N, Kogaki S, Otomo T, Okinaga T, Hamaoka A, Yu X, Hata Y, Nishida N, Yost HJ, Bowles NE, Brunelli L, Ichida F.
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Journal Title
Gene
Volume: 515
Issue: 1
Pages: 173-180
DOI
Related Report
Peer Reviewed
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[Journal Article] Prevalence and Distribution of Sarcomeric Gene Mutations in Japanese Patients With Familial Hypertrophic Cardiomyopathy.2012
Author(s)
Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, Kitaoka H, Nakamura H, Nakamura K, Okamoto H, Ichida F, et al
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Journal Title
Circ J.
Volume: 76
Pages: 453-461
NAID
Related Report
Peer Reviewed
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[Journal Article] Efficacy of immunoglobulin plus predonisolone for prevention of coronary artery abnormalities in severe Kawasaki disease (RAISE study): a randomised, open-label, blinded-endpoints trial2012
Author(s)
Kobayashi T, Saji T, Otani T, Takeuchi K, Nakamura T, Arakawa H, Kato T, Hara T, Hamaoka K, Ogawa S,et al.
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Journal Title
Lancet
Volume: 379
Issue: 9826
Pages: 1613-1620
DOI
Related Report
Peer Reviewed
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[Presentation] Optimal timing of initial treatment in severe Kawasaki disease: A sub-analysis of the RAISE study.2013
Author(s)
6. Ikeda K, Saji T, Kobayashi T, Yahata T, Okamoto A, Arakawa H, Kato T, Hara T, Ogawa S, Miura M, Nomura , Fuse S, Ichida F, Ayusawa M, Abe J, Morikawa A, Hamaoka K.
Organizer
47th Annual Meeting of AEPC
Place of Presentation
London, 英国
Related Report
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[Presentation] 小児期の心筋症
Author(s)
5. 市田蕗子
Organizer
第20回秋田県南心・血管・頸部エコー研究会
Place of Presentation
秋田
Related Report
Invited
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[Book] 内科2012
Author(s)
市田蕗子
Total Pages
2
Publisher
南江堂
Related Report
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