The effect of new medical treatment for hereditary retinal degeneration based on its molecular pathogenesis

基于遗传性视网膜变性分子发病机制的新药治疗效果

基本信息

批准号：
14370552
负责人：
NAKAZAWA Mitsuru
金额：
$ 9.41万
依托单位：
Hirosaki University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2002
资助国家：
日本
起止时间：
2002 至 2004
项目状态：
已结题

项目摘要

The aims of this research project are to investigate responsible genes for hereditary retinal degeneration namely retinitis pigmentosa and to examine the possibility for novel medical treatments for these diseases based on the findings of molecular pathogenesis that would be obtained by the molecular genetic analyzes.As for the first point, i. e. molecular genetic analysis for retinitis pigmentosa and allied diseases, we have first reported that the GCAP2 gene is one of the responsible genes for retinitis pigmentosa based on the findings that we had identified the same mutation in the GCAP2 gene in the affected members of three independent Japanese families (Sato, Nakazawa, et al.,2005). We had focused on this gene as a candidate gene for retinitis pigmentosa for more than 5 years. Moreover, the further genotype-and-phenotype study revealed that this particular mutation was associated with not only typical retinitis pigmentosa, but also retinitis pigmentosa associated with macular dege … More neration or solely macular degeneration, suggesting that the mutation in the GCAP2 gene may be related to genetic heterogeneity. In addition, because GCAP2 protein is a kind of calcium-binding protein, it is also suggested that calcium ion may play a certain role when retinal degeneration occurs in relation to the mutation in the GCAP2 gene.As for the second point, i. e. novel medical treatment for retinitis pigmentosa, we have already reported the experimental therapeutic effects of calcium antagonist on retinal degeneration of RCS rats and rd (retinal degeneration) mouse (Takano, Nakazawa, et al.,2004). These experimental animal studies favorably suggest the possibility that some of calcium antagonists may play as a photoreceptor-protective agents for retinitis pigmentosa. We further examined the effect of antocyanine on experimental retinal degeneration. Results indicate that it delays retinal degeneration of RCS rats electrophsyolosically. These results suggest further availability of antocyanine as a thrapeutic agent for retinitis pigmentosa. Less

基于分子发病机理I遗传分析的发现，预期性视网膜炎的治疗可能性的预性视网膜炎的可能性，即对第一点的分子遗传分析，用于视网膜和盟军的遗传分析，用于视网膜遗传学分析和盟军的遗传分析，用于视网膜遗传学分析和盟军的遗传分析，用于原遗传分析，对原遗传分析的病毒治疗可能性，用于视网膜治疗的可能性，用于视网膜治疗。关于我们发现在三个独立日本家族的受影响成员的GCAP2基因中我们已经确定了相同突变的发现（Sato，Nakazawa等人比5年。突变与典型的色素性视网膜炎有关，但也与与Macualar Dege相关的视网膜炎色素... ly黄斑变性，GCAP2基因的突变可能是钙结合蛋白的IND，还建议钙离子可能在何时扮演一定的作用退化是与GCA P2基因的突变有关的。 Takano，Nakazawa，2004年。较少的