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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患者有很大的不同。为了阐明原因，我们进行了以下研究。1.瑞典北方地区实况调查：神经科、眼科等8名医生前往瑞典北方地区，了解患者的临床表现和生活方式。2.微量金属研究：收集池塘水、河水和自来水管中的水，测定水中12种金属。3.单体型研究：瑞典FAP患者的单倍型与其他国家FAP患者的单倍型进行了比较。通过研究，水中的金属，砷浓度极高，与日本样品相比。本计画将于明年在本研究所的淀粉样蛋白形成实验系统中，探讨砷对体外淀粉样蛋白形成的影响。在临床表现方面，正如我们所预料的，大多数患者是晚发性的，临床表现非常轻微。在单倍型研究中，瑞典FAP患者的样本与日本、葡萄牙和西班牙FAP患者的样本相比，在几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。