2006 Fiscal Year Final Research Report Summary
Clinical evaluation and development of treatment for X linked hydrocephalus by gene mutation analysis of neural cell adhesion molecule L1CAM
| Project/Area Number |
16390424
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Cerebral neurosurgery
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| Research Institution | National Hospital Organization Osaka National Hospital |
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Principal Investigator |
YAMASAKI Mami National Hospital Organization Osaka National Hospital, Clinical Research Institute, Section leader, 政策医療基盤技術開発研究室, 室長 (10359309)
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| Co-Investigator(Kenkyū-buntansha) |
KUSUOKA Hideo National Hospital Organization Osaka National Hospital, Clinical Research Institute, President, 医療情報研究室, 院長 (00112011)
KORETSUNE Yukihiro National Hospital Organization Osaka National Hospital, Clinical Research Institute, Director, 臨床疫学研究室, 部長 (50243217)
KANEMURA Yonehiro National Hospital Organization Osaka National Hospital, Clinical Research Institute, Research staff, 政策医療基盤技術開発研究室, 研究員 (80344175)
KAMIGUCHI Hiroyuki Riken, Laboratory Head, チームリーダー (10233933)
OKAMOTO Nobuhiko Research Institute Osaka Medical Center for Maternal and Child Health, Research leader, 兼務研究長
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| Project Period (FY) |
2004 – 2006
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| Keywords | X-linked hydrocephalus / neural cell adhesion molecule / gen, analysis / prenatal diagnosis / neural stem cells |
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| Research Abstract |
X-linked hydrocephalus (XLH), MASA syndrome, and certain forms of X-linked spastic paraplegia (SPG1) and X-linked agenesis of the corpus callosum (ACC) are now known to be caused by mutations in the gene for the neural cell adhesion molecule L1. Therefore, these syndromes have been reclassified as L1 syndrome. We performed a nation-wide genetic analysis of patients with hydrocephalus, focusing on the L1CAM (L1) gene, and identified 39 types of L1 gene mutations in 45 families with L1 syndrome.
We published a paper on the neuroradiological criteria for severe type of L1 syndrome
To clarify the molecular mechanism of hydrocephalus of L1CAM, the patients with MASA syndrome and X-linked spastic paraplegia and the hydrocephalic male patients presenting mild phenotype were included into the materials for analysis. In this analysis, we identified a silent mutation, which we suspected to be responsible for the phenotype in ten families. We evaluated the significance of this silent mutation. We reported these data at Japanese Neuroscience meeting Kyoto in July 2006.
We also performed prenatal L1 gene analysis for the fetuses whose mothers carry the L1 mutation, with the approval of the Institutional Review Board of Osaka National Hospital on December, 2004. Kamiguchi H demonstrated the mechanism of L1-mediated neurite growth and L1-associated signals using transfected cells or migration assay system.
Kanemura Y established an analyzing system using the human neural stem cells with L1 mutation.
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Research Products
(61 results)
