2015 Fiscal Year Final Research Report
Analysis of the causative glycan for muscular dystrophy and exploration of the therapeutic possibility of its neuronal dysfunction
| Project/Area Number |
26670499
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Kobe University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Keywords | 糖鎖 / ジストログリカノパチー / 福山型筋ジストロフィー / 質量分析 / NMR構造解析 / 糖転移酵素 / a-dystroglycan / 神経機能障害 |
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| Outline of Final Research Achievements |
In this study, we aimed to delineate the full O-Man glycan structure of a-dystroglycan (a-DG) whose abnormalities cause muscular dystrophy, to clarify the biosynthesis pathway of the glycan, to understand the pathology of neuronal dysfunction of the disease, and to explore its therapeutic possibility. We determined the unknown glycan structure in part by MS analysis of a large quantity of the purified a-DG recombinant protein. We also identified the functions of some genes that are responsible for muscular dystrophy, and determined the detailed structure of the glycan in part that was synthesized using the gene products by MS and NMR analyses. We could not find a novel protein modified with the O-Man glycan or a novel a-DG ligand. We could not see the phenotype of the model mice by behavioral analysis. We are trying the intracerebral administration of antisense oligonucleotides to the model mice. Further investigations are required.
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| Free Research Field |
人類遺伝学、 ゲノム医科学
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