A research for dissecting molecular pathogenesis of SCA31.

我们进行了三年(2009-2011财年)的基础研究，并成功地制作了SCA31模型小鼠。我们将来自SCA31感染个体的细菌人工染色体克隆导入小鼠受精卵。我们获得了9个目的基因阳性的品系。最终建立了四个不同的品系。证实SCA31突变在转基因小鼠中转录。这些成果对于进一步了解SCA31的发病机制以及建立治疗方法都是至关重要的。

We performed basic research for three years(FY2009-2011) and achieved a success to generate SCA31 model mice. We introduced a BAC(bacterial artificial chromosome) clone, derived from a SCA31 affected individual, into mice fertilized eggs. We obtained 9 lines positive for the gene of interest. Four different lines were finally established. The SCA31 mutation was confirmed transcribed in the transgenic mice. These achievements are crucial for the future understanding of pathogenesis as well as establishment of treatments in SCA31.