Gene therapy for familial amybidotic polyneuropathy by urtra-fundaoning artificial nucleic acids

超基人工核酸基因治疗家族性淀粉样多发性神经病

基本信息

批准号：
15390275
负责人：
ANDO Yukio
金额：
$ 7.49万
依托单位：
Kumamoto University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2003
资助国家：
日本
起止时间：
2003 至 2004
项目状态：
已结题

项目摘要

It is well known that the phenotype of Swedish FAP patients is quite different from that in other countries' FAP patients. To elucidate the reason, we performed the following studies. 1.Fact-finding study in northern part of Sweden : totally 8 medical doctors, such as neurologists and ophthalmologists went to northern part of Sweden to check clinical manifestations of the patients and way of living. 2.Trace metal study : Water in pond, river well, and water from water pipes were collected to measure 12 metals in water. 3.Haplotype study : Haplotypes of Swedish FAP patients were compared with those in other countries' FAP patients.By the studies, of metals in water, As concentrations were extremely higher compared with those in Japanese samples. In this project in next year, effect of As on amyloid formation in vitro will be examined in our amyloid formation assay system. Concerning clinical manifestations, as we expected, most of the patients was late-onset, and clinical manifestations were very mild. In the haplotype study, Swedish FAP patient samples showed different haplotypes in several genes compared with those in Japanese, Portugal, and Spanish FAP patients, suggesting that inaddition to the effect by environmental factors, the difference of the genetic background may partially explain the phenotype difference.In these points we continue our research projects in the next year.

众所周知，瑞典FAP患者的表型与其他国家FAP患者的表型完全不同。为了阐明原因，我们进行了以下研究。 1.在瑞典北部进行的探索研究：全部8位医生，例如神经病学家和眼科医生去了瑞典北部，检查了患者的临床表现和生活方式。 2.迹线金属研究：收集池塘，河流和水管中的水中的水，以测量水中的12金属。 3. Haplotype研究：将瑞典FAP患者的单倍型与其他国家FAP患者的患者进行了比较。通过研究，水中的金属，因为与日本样品中的浓度相比，浓度高得多。在明年的该项目中，将在我们的淀粉样蛋白形成测定系统中检查体外淀粉样蛋白形成的效果。正如我们预期的那样，关于临床表现，大多数患者是迟到的，临床表现非常温和。在单倍型研究中，与日语，葡萄牙和西班牙FAP患者相比，瑞典FAP患者样品在几种基因中显示出不同的单倍型，这表明遗传背景的差异可能部分解释了表型差异。

项目成果

期刊论文数量（72）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Targeted conversion of the transthyretin gene in vitro and in vivo

DOI：
10.1038/sj.gt.3302228
发表时间：
2004-05-01
期刊：
GENE THERAPY
影响因子：
5.1
作者：
Nakamura, M;Ando, Y;Yamamura, K
通讯作者：
Yamamura, K

Lactoferrin Glu561Asp Facilitates Amyloid Formation in the Cornea.

乳铁蛋白 Glu561Asp 促进角膜中淀粉样蛋白的形成。

DOI：
发表时间：
2005
期刊：
British Journal of Ophthalmology 89
影响因子：
0
作者：
Araki-Sasaki K;Ando Y;Nakamura M;Kitagawa K;Ikemizu S;Kawaji T;Yamashita T;Veda M;Hirano K;Yamada M;Matsumoto K;Kinoshita S;Tanihara H.
通讯作者：
Tanihara H.

Ando Y, et al.: "A novel tool for detecting amyloid deposits in systemic amyloidosis in vitro and in vivo"Lab Invest. 83. 1751-1759 (2003)

Ando Y 等人：“一种用于在体外和体内检测系统性淀粉样变性中淀粉样蛋白沉积的新工具”Lab Invest。