| Project/Area Number |
17K16237
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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 |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 大脳白質形成不全症 / 髄鞘化障害 / 先天性大脳白質形成不全症 / Pelizaeus-Merzbacher病 / PLP1 / オリゴデンドロサイト / 神経科学 |
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| Outline of Final Research Achievements |
Pelizaeus-Merzbacher disease (PMD), which is the most common congenital cerebral white matter deficiency, is a refractory disease caused by a mutation in the PLP1 gene, and there is still no effective treatment. In this study, we attempted to construct a culture model for the most severe form of PMD associated with a PLP1 gene point mutation, but we could not construct a stable model. We made a culture model that causes the myelination of nerves, and morphologically observed this culture model to confirm that the myelination was impaired.
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| Academic Significance and Societal Importance of the Research Achievements |
PMDは、先天性大脳白質形成不全症の中で最多の疾患であり、難治に経過する疾患であることから、本症例における治療法開発が望まれる。本研究においては、最重症型を示すPMDの治療法開発には至らなかったものの、PLP1遺伝子の機能喪失変異によって生じる軽症型PMDの症状に合致する末梢神経の髄鞘化障害をきたす培養モデルを作成し、この培養モデルに関して形態学的な観察を行い、髄鞘形成が障害されていることを確認した。今後、軽症型PMDにおける治療応用により、社会に貢献できる可能性がある。
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