Genetic analysis of cerebrotendinous xanthomatosis
脑腱性黄瘤病的遗传分析
基本信息
- 批准号:06044070
- 负责人:
- 金额:$ 2.75万
- 依托单位:
- 依托单位国家:日本
- 项目类别:Grant-in-Aid for international Scientific Research
- 财政年份:1994
- 资助国家:日本
- 起止时间:1994 至 1995
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
1) Identification of novel mutation in CTX patient : The underlying biochemical defect of cerebrotendinous xanthomatosis (CTX) is a lack of sterol 27-hydroxylase, which leads to the accumulation of cholestanol in several tissues. We investigated a 44-year-old Japanese male CTX patient. Non-RI-PCR-SSCP method was applied to analyze the CYP 27 gene. Abnormally migrating bands of the patient indicated that a mutation exists within and/or around exon 7. Direct sequence analysis was conducted and new two point mutations at codon 397 [GTG (Val) to GGT (Gly)] at the heme ligand binding region of the CYP 27 were identified.2) RNase protection assay of CYP 27mRNA : Then we adopted an RNase protection assay which is expected to identify the CYP27 mRNA more specifically and sensitively. (1) CYP27cDNA (nt 675-958) was amplified by PCR and an Eco RI and Bam HI digested fragment of the CYP27cDNA was isolated and subcloned into the pBluescript II SK+vector. (2) The plasmid was linearized by Eco RI di … More gestion. ^<32>P-labeled anti-sense RNA (cDNA) was prepared by transcription of the DNA with T3 RNA polymerase with the exixtence of ^<32>P-labeled nucleotides. (3) RNA was extracted from human liver and human rhabdomyosarcoma cells. ^<32>P-labeled probe was hybridized with 15 mg of RNA.Unhybridized regions were digested by the RNase T1 and RNase A treatment. (4) Samples were loaded on the sequence gel. The bands of expected size were confirmed compared with the DNA size marker. Human g actin mRNA was detected in both liver and RD cells, but CYP27 mRNA was detected only in liver. For the purpose of CTX diagnosis, it is necessary to improve the sensitivity to detect mRNA using human fibroblast.3) Treatment of CTX patient : Atherosclerosis is one of the major symptoms in CTX.We applied pravastatin treatment together with CDCA administration The progression of disease was arrested, but dramatic effects on clinical manifestations, xanthoma, and electrophysiological findings could not be found after the treatment of these drug. Less
1)CTX患者中新突变的鉴定:腱性黄瘤病(CTX)的潜在生化缺陷是缺乏甾醇27-羟化酶,这导致胆甾烷醇在几种组织中积累。我们调查了一名44岁的日本男性CTX患者。采用非RI-PCR-SSCP方法对HSP 27基因进行分析。患者的异常迁移条带表明外显子7内和/或附近存在突变。直接序列分析发现CYP 27基因第397位密码子发生了两个新的点突变[GTG(瓦尔)→ GGT(Gly)]。2)CYP 27 mRNA的RNase保护试验:采用RNase保护试验对CYP 27 mRNA进行检测,以期更特异、更灵敏地检测CYP 27 mRNA。(1)通过PCR扩增CYP 27 cDNA(nt 675-958),分离经EcoRI和BamHI消化的CYP 27 cDNA片段,并将其亚克隆到pBluescriptII SK+载体中。(2)质粒经EcoRI双酶切线性化, ...更多信息 管理。用<32>T_3 RNA聚合酶在一定量的~(13)P标记核苷酸存在下转录得到~(13)P标记的反义RNA(cDNA)<32>。(3)从人肝和人横纹肌肉瘤细胞中提取RNA。用<32>15 mg RNA与P标记的探针杂交,未杂交的区域用RNase T1和RNase A消化。(4)将样品加载到测序凝胶上。与DNA大小标记物相比,确认了预期大小的条带。人g actin mRNA在肝脏和RD细胞中均被检测到,但CYP 27 mRNA仅在肝脏中被检测到。3)CTX患者的治疗:动脉粥样硬化是CTX的主要症状之一,我们采用普伐他汀联合CDCA治疗,虽然疾病进展得到了抑制,但对临床表现、黄色瘤和电生理检查结果没有明显影响。少
项目成果
期刊论文数量(12)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Wen-Neng Chang,M.Kuriyama,E.C.-Y.Chee: "Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid in three siblings" J.Formos.Med.Assoc.93. 256-259 (1994)
Wen-Neng Chang,M.Kuriyama,E.C.-Y.Chee:“用鹅去氧胆酸治疗三个兄弟姐妹的脑腱黄瘤病”J.Formos.Med.Assoc.93。
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- 影响因子:0
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- 通讯作者:
Wengen Chen,Shunichiro Kubota,Yukiko Nishimura,Shuichi Nozaki,Shizuya Yamashita,Tsutomu Nakagawa,Kaoru Kameda-Takemura,Masakazu Menju,Yuji Matsuzawa,Ingemar Bjoerkhem,Goesta Eggertsen,and Yousuke Seyama: "Genetic Analysis on a Japanese Cerebrotendinous Xa
Wengen Chen、Shunichiro Kubota、Yukiko Nishimura、Shuichi Nozaki、Shizuya Yamashita、Tsutomu Nakakawa、Kaoru Kameda-Takemura、Masakazu Menju、Yuji Matsuzawa、Ingemar Bjoerkhem、Goesta Eggertsen 和 Yousuke Seyama:“日本脑腱 Xa 的遗传分析
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程錦雁,久保田俊一郎,西村友紀子,金慶淑,栗山勝,米本恭三,Ingemar Bjoerkhem,広澤一成,脊山洋右: "脳腱黄色腫症における遺伝子異常" 生化学. 66. 719 (1994)
Nishikigan Cho、Shunichiro Kubota、Yukiko Nishimura、Kyungsook Kim、Masaru Kuriyama、Kyozo Yonemoto、Ingemar Bjoerkhem、Kazunari Hirosawa、Yosuke Seyama:“脑腱黄瘤病的遗传异常”生物化学 66. 719 (1994)。
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西村友紀子,久保田俊一郎,陳文根,程錦雁,寺本民生,Ingemar Bjoerkhem,脊山洋右: "脳腱黄色腫症における遺伝子異常" 生化学. 67. 814 (1995)
Yukiko Nishimura、Shunichiro Kubota、Wengen Chen、Jinyan Cheng、Tamio Teramoto、Ingemar Bjoerkhem、Hiroshi Seyama:“脑腱黄瘤病的遗传异常”生物化学 67. 814 (1995)。
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- 影响因子:0
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M.Kuriyama,Y.Tokimura,J.Fujiyama,Y.Utatsu,M.Osame: "Treatment of cerebrotendinous xanthomatosis effects of chenodeoxycholic acid pravastatin,and combined use" J.Neurol.Sci.125. 22-28 (1994)
M.Kuriyama,Y.Tokimura,J.Fujiyama,Y.Utatsu,M.Osame:“鹅去氧胆酸普伐他汀治疗脑腱黄瘤病的作用,以及联合使用”J.Neurol.Sci.125。
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SEYAMA Yousuke其他文献
SEYAMA Yousuke的其他文献
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{{ truncateString('SEYAMA Yousuke', 18)}}的其他基金
Induction Mechanism of Apoptosis in Cerebrotendinous Xanthomatosis
脑腱黄瘤病细胞凋亡的诱导机制
- 批准号:
13480201 - 财政年份:2001
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Effects of cholestanol on neuronal cell death
胆甾醇对神经细胞死亡的影响
- 批准号:
11470032 - 财政年份:1999
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Control of acyl-CoA dehydrogenase expression by androgen.
雄激素控制酰基辅酶A脱氢酶的表达。
- 批准号:
11694251 - 财政年份:1999
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for Scientific Research (B).
Androgenic regulation of acyl-CoA dehydrogenase expression
酰基辅酶A脱氢酶表达的雄激素调节
- 批准号:
09044269 - 财政年份:1997
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for international Scientific Research
Mechanism of cerebellar neuronal cell death in CTX patients
CTX患者小脑神经细胞死亡机制
- 批准号:
09470039 - 财政年份:1997
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Identification of sterol 27 hydroxylase gene mutations in CTX patients
CTX患者甾醇27羟化酶基因突变的鉴定
- 批准号:
07457034 - 财政年份:1995
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Genetic diagnosis of cerebrotendinous xanthomatosis
脑腱黄瘤病的基因诊断
- 批准号:
04454167 - 财政年份:1992
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for General Scientific Research (B)
Pathophysiological investigation on cerebrotendinous xanthomatosis
脑腱黄瘤病的病理生理学研究
- 批准号:
02044044 - 财政年份:1990
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for international Scientific Research
Establishment of CTX Model Animal and Survey of its Pathogenesis.
CTX模型动物的建立及其发病机制的探讨。
- 批准号:
02454154 - 财政年份:1990
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for General Scientific Research (B)
Harderian Gland as a Model Organ for Study of Circadian Rhythm.
哈德氏腺作为昼夜节律研究的模型器官。
- 批准号:
62440085 - 财政年份:1987
- 资助金额:
$ 2.75万 - 项目类别:
Grant-in-Aid for General Scientific Research (A)