| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
Among skeletal muscle channelopathies, genetic and pathophysiological analyses were conducted, focusing on periodic paralysis of which pathomechanism is most poorly understood. Analysis of single nucleotide polymorphism was performed on sporadic periodic paralysis, which was not considered as hereditary due to a lack of family history, and clarified the existence of genetic background. We also found a case with multiple mutations suspected of pathogenicity and revealed that functional abnormalities due to both mutations contribute to disease severity. Similar cases are likely to be found more and more in the future due to the spread of next generation sequencing. Thus our finding, phenotypic modification by rare variant, is an important new pathological mechanism of channel disease.
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