Molecular biology of neurological diseases with abnormality of central or peripheral nerve myelin

中枢或周围神经髓磷脂异常的神经系统疾病的分子生物学

基本信息

  • 批准号:
    07670720
  • 负责人:
  • 金额:
    $ 1.41万
  • 依托单位:
  • 依托单位国家:
    日本
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
  • 财政年份:
    1995
  • 资助国家:
    日本
  • 起止时间:
    1995 至 1996
  • 项目状态:
    已结题

项目摘要

Purpose :1. Gene mapping of neurological diseases with abnormality of central or peripheral nerve myelination using microsatellite polymorphic DNA markers.2. DNA sequencing of the families with neurological diseases linked to PLP, P0 or PMP22 gene locus.3. Linkage analysis of the families with no linkage to the known gene locus using 280 (CA) repeat microsatellite markers.4. Cloning of the genes mapped by the linkage analysis.Results :1. The gene responsible for a new type of motor and sensory neuropathy was mapped to chromosome 3 centromere region.2. In this region ; the patients'chromosomes showed an obvious increase in the allele frequency of five markers. One allele in D3S1591 was identical in all patients but had a low frequency in the control population. This finding suggested the presence of linkage disequilbrium and a common origin of this allele in all patients.3. Other familial disorders linked to P0 or PMP22 gene locus were analyzed by PCR-SSCP and DNA sequencing Linkage analysis of familial disorders with central or peripheral nerve abnormalities, which were not linked to PLP,P_0 and PMP22 gene loci, has been started. Conclusions : We identified a new type of hereditary motor and sensory neuropathy in this research project. Gene cloning responsible for this new disease is the important next research project.
目的:1.利用微卫星多态性DNA标记对中枢或周围神经髓鞘形成异常的神经系统疾病进行基因定位.与PLP、P0或PMP 22基因位点连锁的神经系统疾病家系的DNA测序.利用280个(CA)重复微卫星标记对与已知基因位点不连锁的家系进行连锁分析.克隆了连锁分析定位的基因。一种新型运动和感觉神经病的基因定位于3号染色体的着丝粒区域。在该区域,患者的染色体显示出五个标记的等位基因频率明显增加。D3 S1591中的一个等位基因在所有患者中是相同的,但在对照人群中的频率较低。这一发现表明所有患者存在连锁不平衡,该等位基因的起源相同.用PCR-SSCP和DNA测序方法分析与P0或PMP 22基因位点连锁的其他家族性疾病。对与PLP、P0和PMP 22基因位点无关的中枢或周围神经异常家族性疾病进行连锁分析。结论:我们在这项研究项目中发现了一种新的遗传性运动和感觉神经病。克隆导致这种新疾病的基因是下一个重要的研究项目。

项目成果

期刊论文数量(34)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Nakagawa M,Higuchi I,Yoshidome H,Isashiki Y,et al.: "Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality." Acta Neurol Scand. 93. 189-192 (1996)
Nakakawa M、Higuchi I、Yoshidome H、Isashiki Y 等人:“家族性面肩肱型肌营养不良症:表型多样性和遗传异常。”
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    0
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Anan R,Nakagawa M,Miyata M,Higuchi I,et al.: "Cardiac Involvement in mitochondrial diseases:a study on 17 patients with documented mitochondrial DNA defects." Circulation. 91. 955-961 (1995)
Anan R、Nakakawa M、Miyata M、Higuchi I 等人:“线粒体疾病涉及心脏:对 17 名有线粒体 DNA 缺陷记录的患者进行的研究。”
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    0
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H.Takashima,M.Nakagawa,K.Nakahara,M.Suehara,et al.: "A New Type of Hereditary Motor and Sensory Neuropathy linked to chromosome 3." Ann Neurol(in press).
H.Takashima、M.Nakakawa、K.Nakahara、M.Suehara 等人:“与 3 号染色体相关的新型遗传性运动和感觉神经病”。
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    0
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Utatsu Y,Takashima H,Michizono K,Kanda N,et al.: "Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: clinical,neuroimaging and genetic studies." J Neurol Sci. (in press).
Utatsu Y,Takashima H,Michizono K,Kanda N,et al.:“日本家庭中常染色体显性早发性痴呆和白质脑病:临床、神经影像学和遗传学研究。”
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    0
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Nakamura A,Izumi K,Umehara F,Kuriyama M,et al.: "Familial spastic paraplegia with mental impairment and thin corpus callosum." J Neurol Sci. 131. 35-42 (1995)
Nakamura A,Izumi K,Umehara F,Kuriyama M,et al.:“家族性痉挛性截瘫伴精神障碍和胼胝体薄。”
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    0
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NAKAGAWA Masanori其他文献

NAKAGAWA Masanori的其他文献

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{{ truncateString('NAKAGAWA Masanori', 18)}}的其他基金

Research for investigating Alexander disease using astrocytes differentiated from iPS cells
使用 iPS 细胞分化的星形胶质细胞调查亚历山大病的研究
  • 批准号:
    24659433
  • 财政年份:
    2012
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
The overseas scientific research for the elucidation of the mechanism of a novel familial motor neuron disease with sensory neuropathy originated in Japan
起源于日本的新型家族性运动神经元疾病伴感觉神经病发病机制的海外科学研究
  • 批准号:
    24406030
  • 财政年份:
    2012
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
The overseas scientific research for the elucidation of the mechanism of a novel hereditary motor sensory neuropathy originated in Japan
起源于日本的新型遗传性运动感觉神经病发病机制的海外科学研究
  • 批准号:
    21406026
  • 财政年份:
    2009
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
An experimental and theoretical study on psychological mechanism of metaphor understanding and metaphor generation
隐喻理解与隐喻生成心理机制的实验与理论研究
  • 批准号:
    19330156
  • 财政年份:
    2007
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Molecular analysis of a new type of spinocerebellar degeneration with GFAP mutations
具有 GFAP 突变的新型脊髓小脑变性的分子分析
  • 批准号:
    15590902
  • 财政年份:
    2003
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Development of a feedback neural network model of expert's decision-making process
专家决策过程反馈神经网络模型的开发
  • 批准号:
    15300270
  • 财政年份:
    2003
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
The Construction of The Chaotic Neural Networks System of Insightful Problem Solving
洞察问题解决的混沌神经网络系统的构建
  • 批准号:
    13480043
  • 财政年份:
    2001
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Molecular analysis of a new type of hereditary motor sensory neuropathy with proximal dominant involvement
近端显性受累的新型遗传性运动感觉神经病的分子分析
  • 批准号:
    13670661
  • 财政年份:
    2001
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Longitudinal study in an island community for aging effects on neurological findings and genetic factors on vascular dementia
在岛屿社区中进行的纵向研究,了解衰老对神经系统检查结果的影响以及血管性痴呆的遗传因素
  • 批准号:
    10670596
  • 财政年份:
    1999
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
The Experimental Study of Logical Learning System using Computer
计算机逻辑学习系统的实验研究
  • 批准号:
    10480034
  • 财政年份:
    1998
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)

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Myelin imagingの妥当性検証と多発性硬化症患者における臨床的有用性の確立
髓磷脂成像在多发性硬化症患者中的验证和临床应用的建立
  • 批准号:
    24K18809
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    2024
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    $ 1.41万
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The role of protein arginine methyl transferase PRMT1 on myelin development
蛋白精氨酸甲基转移酶PRMT1对髓磷脂发育的作用
  • 批准号:
    23K14287
  • 财政年份:
    2023
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    $ 1.41万
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    Grant-in-Aid for Early-Career Scientists
Comparison of direct and indirect magnetic resonance imaging of myelin in Alzheimer's disease
阿尔茨海默病髓磷脂直接和间接磁共振成像的比较
  • 批准号:
    10680319
  • 财政年份:
    2023
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    $ 1.41万
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Mechanisms of Kallikrein 6 in Myelin Plasticity, Motor Learning, and Fear Memory
激肽释放酶 6 在髓鞘可塑性、运动学习和恐惧记忆中的机制
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    10677390
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    2023
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Myelin Content and Cognitive Trajectories in Young Adults Living with Virally Suppressed HIV
感染病毒抑制的艾滋病毒的年轻人的髓磷脂含量和认知轨迹
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Quantitation of myelin damage in optic nerve, brainstem, cervical spinal cord, and corpus-callosum in MS
MS 中视神经、脑干、颈脊髓和胼胝体髓磷脂损伤的定量
  • 批准号:
    10580879
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    2023
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New cell biology tools to study myelin development, dynamics, and disease
研究髓磷脂发育、动力学和疾病的新细胞生物学工具
  • 批准号:
    10649184
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New methods to quantify axonal magnetic properties and myelin integrity using MRI
使用 MRI 量化轴突磁性和髓磷脂完整性的新方法
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    2883541
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    2023
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    $ 1.41万
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    Studentship
Elucidation of the novel mechanism of multiple sclerosis based on the molecular mimicry between gut microbial and myelin antigens
基于肠道微生物和髓磷脂抗原之间的分子模拟阐明多发性硬化症的新机制
  • 批准号:
    23K14765
  • 财政年份:
    2023
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    Grant-in-Aid for Early-Career Scientists
Development of a device evaluating myelin formation
开发评估髓磷脂形成的装置
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    23K18206
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    2023
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  • 项目类别:
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