| 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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