| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
(1)Using next-generation sequence (NGS) systems, we analyzed 67 cardiomyopathy-associated genes for various types of cardiomyopathy patients. Out of those, pediatric hypertrophic cardiomyopathy (HCM) patients who was high risk group of sudden cardiac death identified the mutations at high rate for not only familial but non-familial cases. Furthermore, novel homozygous desmin gene mutation was found in pediatric HCM. (2) Novel gene X mutation have been found in large HCM family with whole exome sequence. Some different mutations of gene X were found in HCM. (3) Also, novel gene A mutations associated with cardiomyopathy were found. Deletion and missense mutations of gene A were respectively identified in dilated cardiomyopathy (DCM) and HCM. Now we investigate the role of gene X and A for developing cardiomyopathy.
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