Innovation of novel treatment and fetal therapy for ichthyosis

在本项目中，为了创新鱼鳞病的治疗方法，我们制作了一个正常的人ABCA12基因结构，并将其导入鱼鳞病患者和ABCA12基因敲除的小鼠(鱼鳞病模型鼠)培养的角质形成细胞中。我们从转基因的角质形成细胞中重建鱼鳞病病变，并评估转基因ABCA12基因构建体的治疗效果。此外，我们还对ABCA12干扰小鼠的胚胎进行了治疗实验。从这些结果中，我们获得了建立治疗先天性鱼鳞病的新的有效方法的线索。

In the present project, in order to innovate a novel therapy for ichhthyosis, we made a normal human ABCA12 gene construct, and performed transfection experiments of the construct into the cultured keratinocytes from ichthyosis patients and ABCA12-disrupted mice(ichthyosis model mice). We reconstructed ichthyosis lesions from the transfected keratinocytes and evaluated treatment efficacy of transfected ABCA12 gene constructs. In addition, we performed treatment experiments to fetuses of ABCA12-disrupted mice. From the results, we obtained clues to establish novel effective treatment against congenital ichthyosis.