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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的FAP患者有很大不同。为了阐明原因，我们进行了以下研究。 1.瑞典北部实地考察：神经科医生、眼科医生等8名医生前往瑞典北部地区，了解患者的临床表现和生活方式。 2.痕量金属研究：收集池塘、河井水和水管中的水，测量水中的12种金属。 3.单体型研究：将瑞典FAP患者的单体型与其他国家FAP患者的单体型进行比较。通过研究，水中的金属As浓度与日本样品中的相比极高。在明年的这个项目中，我们的淀粉样蛋白形成检测系统将检查砷对体外淀粉样蛋白形成的影响。从临床表现来看，正如我们所预料的那样，大多数患者是晚期发病，临床表现非常轻微。在单倍型研究中，瑞典FAP患者样本与日本、葡萄牙和西班牙FAP患者样本相比，在多个基因上显示出不同的单倍型，这表明除了环境因素的影响外，遗传背景的差异可能部分解释了表型差异。在这些方面我们将在明年继续我们的研究项目。