| Budget Amount *help |
¥24,050,000 (Direct Cost: ¥18,500,000、Indirect Cost: ¥5,550,000)
Fiscal Year 2018: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2016: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2015: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000)
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| Outline of Final Research Achievements |
Clinical exome sequencing revealed that six cases had arrhythmia-related gene variants and five cases had metabolic disease-related gene variants among 71 cases of sudden infant death. After these 11 cases were excluded, the remaining cases were defined as molecular autopsy-negative SUD and there were no significant differences in the frequency of arrhythmia-causing variants.
The case of a familial myopathy patient was analyzed. The patient had genetic variant which affected RNA splicing, and abnormal alternative splicing was detected in both cardiac and skeletal muscles. These affected isoforms might have caused the cardiac involvement with myopathy. Analyzing alternative splicing in sudden cardiac death was recommended.
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