Development of treatment of harlequin ichthyosis model mouse using ABCA12-reconstruction liposome

最近，有报道称，ABCA12作为一种表皮角质形成细胞的脂质转运体发挥作用，而ABCA12缺陷会导致皮肤脂质屏障的丧失，导致小丑鱼鳞病。到目前为止，遗传性角化病的治疗主要是支持性措施。通过对ABCA12功能的更详细分析，希望能从病理生理学的角度对其治疗方法的发展有所裨益。为了制备重组ABCA12，用脂质体将其表达载体导入哺乳动物细胞。此外，我们的目的是建立稳定的ABCA12表达被抑制的细胞系，并检测ABCA12替换对脂质转运的改善作用。进一步研究使用脂质体补充ABCA12对脂类转运的改善将是很有意义的。

Recently, it was reported that ABCA12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to Harlequin Ichthyosis. Until now, the mainstream of the treatments of hereditary keratosis were supportive measures. The development of the treatment method along the pathophysiology of HI is hoped by analyzing the function of ABCA12 more in detail. In this study, to prepare recombinant ABCA12, its expression vector was transfected to mammalian cells using liposomes. Moreover, we aimed to establish the stable cell line of which the expression of ABCA12 is suppressed, and the improvement of the lipid transport by the ABCA12 replacement is examined. It would be interesting to further examine improvement of lipid transport by supplementation of ABCA12 using liposomes.