2015 Fiscal Year Final Research Report
Genetic analysis of hypertrophic cardiomyopathy with mid-ventricular obstruction phenotype
| Project/Area Number |
25860625
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Cardiovascular medicine
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| Research Institution | Tokyo Medical University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | 肥大型心筋症 / 心室中部閉塞型肥大型心筋症 / 遺伝子変異 |
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| Outline of Final Research Achievements |
A total of 30 patients with clinically diagnosed MVO were investigated and Informed consent was obtained from each patient for gene analysis, and then clinical date were registered. Possible disease-causing mutations were found 20% in this cases. But mutations in sarcomere protein genes were found only MYBPC3 and nebulette, and the others are disease-causing mutations of Fabry-disease and dilated cardiomyopathy.So genetic background of MVO may be considerably different from common type of HCM.
Further MYL3 and MYL2 mutation were reported to disease-causing mutatiom of MVO by Europeans and Americans, but those mutation can't be found by this research and can consider a possibility that the pattern of the cause genetic mutation is different in Europeans and Americans and Japanese by this research.
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| Free Research Field |
循環器内科
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