| Project/Area Number |
17K16629
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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 |
Neurosurgery
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
MUKAWA MAKI 東京医科歯科大学, 医学部附属病院, 医員 (90463918)
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| Research Collaborator |
AKAGAWA Hiroyuki
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | 劇症型もやもや病 / RNF213遺伝子 / もやもや病 / 疾患感受性遺伝子 / RNF213 / 脳神経疾患 |
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| Outline of Final Research Achievements |
p.R4810K genotypes was identified on 72 patients of pediatric Moyamoya disease. Although most cases of general Moyamoya disease were heterozygote (AG) of p.R4810K, fluminant cases were statistically related to wild type (GG). Whole-exome sequencing was conducted for the 6 fluminent cases. As the result, an unreported functional polymorphism, p.H4058P, was detected in one case.
Otherwise, any new polymorphism was not yet found common to multiple fuluminant cases. Whole-exome sequencing yielded enormous gene information. As it needs a long time to process the huge information, the genetic analysis should be continued furthermore.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究によって、劇症型もやもや病の発病にp.R4810K多型以外の要因が関与している可能性や、全エクソームに解析範囲を広げることで新規の病的変異が検出される可能性が示された。そのため、もやもや病の病因研究において、本多型に限った遺伝学的検討では不十分であると考えられ、解析範囲を広げた新規候補遺伝子や候補変異の探索が不可欠であると言える。
また、社会的には、本多型をもやもや病のスクリーニング検査に安易に用いることの危険性が懸念される。
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