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

最近，据报道，ABCA 12作为表皮角质形成细胞脂质转运蛋白起作用，并且缺陷的ABCA 12导致皮肤脂质屏障的丧失，导致丑角鱼鳞病。到目前为止，治疗遗传性角化病的主流是支持性措施。希望通过对ABCA 12功能的更详细分析，沿着HI的病理生理学发展治疗方法。本研究利用脂质体将ABCA 12的表达载体转染到哺乳动物细胞中，制备重组ABCA 12。此外，我们的目的是建立ABCA 12表达被抑制的稳定细胞系，并检查ABCA 12替代对脂质转运的改善。进一步研究通过使用脂质体补充ABCA 12来改善脂质转运将是令人感兴趣的。

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.