Analysis of peripheral neuropathy in rat cultured nerve introduced mutant IGHMBP2 cDNA.

引入突变型 IGHMBP2 cDNA 的大鼠培养神经中周围神经病变的分析。

• 批准号: 17591100
• 负责人: TACHI Nobutada
• 金额: $ 2.3万
• 依托单位: Sapporo Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2005
• 资助国家: 日本
• 起止时间: 2005 至 2006
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17591100/
• 关键词: SMARD1; IGHMBP2 gene; Cultured peripheral nerve; Adenovirus vector; 遺伝子導入; SMARD 1; 983delAAGAA IGHMBP2 cDNA; 培養ラツト神経細胞

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) known as has been reported as a variant form of SMA 1. Responsible gene is immunoglobulin mu-binding protein 2 (IGHMBP2). We identified a new homozygous missense mutation 2685 C→A of IGHMBP2 gene in a first Japanese patient with SMARD 1. First, we made a 2685 C- A IGHMBP2 cDNA by site-directed mutagenesis bases PCR. We made a constructed adeno virus vector contained both wild and 2685 C- A IGHMBP2 cDNAs. We made a cultured rat peripheral nerve using dorsal root of fetal rat. Those cultured nerves were infected by constructed adeno virus vectors. Myelination and axonal sprouting of cultured nerves infected constructed adeno virus vector were observed by immunohistochenistory using anti-Po antibody and electron microscopy. No differences of myelination and axonal changes were observed in cultured nerves infected constructed adeno virus vector containing both a wild and 2685 C- A IGHMBP2. cDNAs. Further more, transgenic mouse containing 2685 C- A IGHMBP2 should be obtained.

脊髓性肌萎缩伴呼吸窘迫1型（SMARD 1）被报道为SMA 1的变异形式。负责基因是免疫球蛋白μ-结合蛋白2（IGHMBP 2）。我们在首例日本SMARD 1患者中发现了IGHMBP 2基因的一个新的纯合错义突变2685 C→A。首先，我们利用定点突变PCR技术，获得了2685个C一A IGHMBP 2 cDNA。我们构建了含有野生型和2685 C-A IGHMBP 2 cDNA的腺病毒载体.以胎鼠背根为材料，培养大鼠周围神经。用构建的腺病毒载体感染培养的神经。用抗Po抗体电镜观察感染腺病毒载体的培养神经的髓鞘形成和轴突出芽。在培养的神经中没有观察到髓鞘形成和轴突变化的差异，所述神经感染了含有野生型和2685 C-A IGHMBP 2的构建的腺病毒载体。cDNA。进一步获得2685 C-A IGHMBP 2转基因小鼠.

项目成果

Aprataxin変異遺伝子689insT患者の小脳症状、末梢神経症状に関する報告.

Aprataxin突变基因689insT患者小脑症状和周围神经症状的报告。

• 发表时间: 2005
• 期刊: 北海道理学療法 22
• 作者: 堀本佳誉;舘 延忠;小塚直樹 他
• 通讯作者: 小塚直樹 他

ウイリアムズ症候群児における視空間情報処理過程の特徴.

威廉姆斯综合征儿童视觉空间信息处理的特点。

• 发表时间: 2006
• 期刊: 作業療法 25
• 作者: 本間朋恵;舘 延忠ら
• 通讯作者: 舘 延忠ら

A new mutation of IGHMBP2 gene in spinal muscular atrophy type 1.

1型脊髓性肌萎缩症IGHMBP2基因的新突变。

• 发表时间: 2005
• 期刊: Pediatr Neurol 32
• 作者: Tachi N;Kikuchi S et al.
• 通讯作者: Kikuchi S et al.

Structural analysis of leucine-rich-repeat bvariants in proteins associated with human diseases.

与人类疾病相关的蛋白质中富含亮氨酸的重复 b 变体的结构分析。

• 发表时间: 2005
• 期刊: Cell Mol Life Sci 62
• 作者: Matsusima N;Tachi N;Kuroki Y;et al.
• 通讯作者: et al.

Walker-Warburg症候群と鑑別を要した福山型先天性筋ジストロフィーの1例.

福山先天性肌营养不良症一例，需要与沃克-瓦尔堡综合征相鉴别。

• 发表时间: 2006
• 期刊: 臨床小児医学 54
• 作者: 加藤高広;舘 延忠ら
• 通讯作者: 舘 延忠ら