| Project/Area Number |
26860682
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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 |
Neurology
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| Research Institution | Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology |
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Principal Investigator |
Yamada Takeyuki 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 研究員 (40725199)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | O-マンノース型糖鎖 / 糖鎖修飾 / 神経分化 / 幹細胞 |
|---|
| Outline of Final Research Achievements |
O-mannose-type glycosylation of a-dystroglycan (a-DG) is required for its extracellular matrix binding activities. Aberrant a-DG glycosylation causes congenital muscular dystrophy (CMD), accompanying neurological and ocular abnormalities. Here, we identified novel mutations in POMGNT1, which encodes an essential component in O-mannosylation pathway, in retinitis pigmentosa. Enzymatic assay showed that the mutants POMGNT1 impaired its enzymatic activities, with only 10 to 30% of the wild type level retained. On the other hand, mutants POMGNT1 identified from CMD nearly abolished its enzymatic activities. These results suggest that a few O-mannose-type glycosylation syntheses suppress CMD, but develop RP.
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