Treatment of sodium valproate and amantazine hydrochloride in spinal muscular atrophy

丙戊酸钠联合盐酸金刚烷胺治疗脊髓性肌萎缩症

• 批准号: 22591133
• 负责人: TACHI Nobutada
• 金额: $ 2.91万
• 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: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22591133/
• 关键词: 小児神経学; 分子遺伝; SMA 複合ヘテロ; SMN1転写産物; SMN2転写産物; SMN蛋白; NMD; 脊髄性筋委縮症; SMN2mRNA; 培養皮膚線維芽細胞; VPA; 塩酸アマンタジン; SMN2 cDNAコピー数; Real-time PCE

Spinal muscular atrophy (SMA) is characterized by degeneration of the motoric neurons of the anterior horn cells of the spinal cord, leading to muscle atrophydue to mutation of telomeric survival motor neuron (SMN1) located in chromosome on 5q13. SMN2, high homology of SMN1, is determined to disease severity. SMA II and III have 3 or 4 numbers of SMN2 gene. Recently, sodium valproate (VPA) treated with epilepsy, increased number of SMN2 gene in vitro. Increased muscle strength with Amantazine treatment has reported in SMA II patients. We studied effect of treatment with VPA and amantazine using ccultured skin fibroblasts derived from SMA patints based on SMN mRNA and protein levels. Results: VPA treatment was effective but Amantazine was no effeitve in vitro.

脊髓性肌萎缩症（SMA）以脊髓前角细胞运动神经元变性为特征，由于位于5q13染色体上的端粒存活运动神经元（SMN1）突变而导致肌肉萎缩。SMN2与SMN1具有高度同源性，与疾病严重程度有关。SMA II型和SMA III型有3个或4个SMN2基因。近年来，丙戊酸钠（VPA）在体外治疗癫痫时，SMN2基因数量增加。阿曼他嗪治疗可增加SMA II患者的肌肉力量。我们基于SMN mRNA和蛋白水平研究了VPA和amantazine对SMA患者皮肤成纤维细胞的治疗效果。结果：VPA治疗有效，而Amantazine在体外无疗效。

项目成果

A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryotransfer

一名强直性肌营养不良患者在第十次体外受精和胚胎移植后流产一名双绒毛膜双羊膜双胞胎后并发胎盘粘连

• 发表时间: 2012
• 期刊: Arch Gynecol Obstet
• 影响因子: 2.6
• 作者: Endo T;Baba T;Sugio A;Morishita M;Takahashi M;Akashi Y;Ishioka S;Tachi N
• 通讯作者: Tachi N

New mutation of CACNA1A gene in episodic ataxia type 2

2型阵发性共济失调中CACNA1A基因的新突变

• 发表时间: 2011
• 期刊: Pediatr Int
• 影响因子: 1.4
• 作者: Nikaido K;Tachi N;Ohya K;Wada T;Tsutsumi H
• 通讯作者: Tsutsumi H

家族性片麻痺性片頭痛の1家系例

有家族性偏瘫性偏头痛家族史

• 发表时间: 2013
• 作者: 木村真司;花木啓一;二階堂弘輝
• 通讯作者: 二階堂弘輝

小児期発症のジスとニア:Dopa-rersponsive dystonia (Segawa 病)を中心に

儿童期发病的肌张力障碍：关注多巴反应性肌张力障碍（濑川病）

• 发表时间: 2012
• 作者: Takako Takemiya;Kiyoshi Matsumura;Kanato Yamagata;舘 延忠
• 通讯作者: 舘 延忠

A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer.

一名强直性肌营养不良患者在第十次体外受精和胚胎移植后流产一名双绒毛膜双羊膜双胞胎后并发胎盘粘附。

• 发表时间: 2012
• 期刊: Arch Gynecol Obstet
• 影响因子: 2.6
• 作者: Takeuchi C;Matsumoto Y;Kohyama K;Uematsu S;Akira S;Yamagata K and Takemiya T.;Endo T
• 通讯作者: Endo T