| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Outline of Final Research Achievements |
The purpose of this study is to identify causative genes for familial hemiplegic migraine through exome analysis and bioinformatics. Affected individuals of a pedigree with severe attacks of hemiplegic migraine complicated with retinitis pigmentosa were subjected to whole exome analysis. Narrowing-down of variants shared among affected individuals through bioinformatic analysis integrating gene expression data has led to the successful identification of three variants considered as candidates for the pathogenic mutation. In addition, 29 exomes have been conducted in this project, which led to the identification of mutations in known causative genes in two pedigrees. In the remaining 27 pedigrees, 2473 novel non-synonymous variants have been identified in total, among which 188 variants were shared among multiple pedigrees. Further accumulation of exome data should be necessary to identify causative genes through leveraging the variation data obtained in this study.
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