A basic research for identifying fundamental therapy for SCA6 and SCA31

我们进行了为期三年（2009-2011财年）的基础研究，并在发现可能能够阻止脊髓小脑性共济失调6型（SCA6）和31型（SCA31）原发性退行性过程的药物方面取得了三项关键进展。首先，我们发现1a -钙通道的羧基末端片段在细胞质中表达时是有毒的。其次，我们成功地开发了一个细胞模型，可以有效地监测1a -钙通道基因的剪接模式。这个模型可能对未来的药物筛选有用。第三，我们发现了SCA31发育所必需的五核苷酸序列。这些成果对今后建立SCA6和SCA31的治疗方法具有重要意义。

We performed basic research for three years(FY2009-2011) and achieved three key developments toward discovering drugs that that may be able to stop primary degenerative processes in spinocerebellar ataxia type 6(SCA6) and 31(SCA31). First, we found that the carboxyl-terminal fragment of the 1A-calcium channel is toxic when expressed in the cytoplasm. Second, we succeeded in developing a cellular model that could efficiently monitor the splicing patterns of the 1A-calcium channel gene. This model could be useful for future drug screens. Third, we found a penta-nucleotide sequence that is necessary for the development of SCA31. These achievements are crucial for the future establishment of treatments of SCA6 and SCA31.