Animal model for dystrophic epidermolysis bullosa and acquired epidermolysis bullosa using genetically engineered mice of type VII collagen

VII型胶原是基底膜带内的结构蛋白，其基因缺陷导致营养不良性大疱性表皮病。另外，产生抗VII型胶原的自身抗体可导致获得性大疱性表皮病。因此，VII型胶原蛋白是皮肤病学领域中的主要蛋白质。本研究的目的是建立VII型胶原相关疾病的动物模型，为揭示疾病的发病机制和利用基因工程小鼠开发新的有效治疗方法做出贡献。本研究可建立长期存活的营养不良性表皮细胞瘤模型小鼠。但在获得性表皮增生模型小鼠中未检测到抗VII型胶原自身抗体。此外，我们还对大疱性表皮病患者进行了突变分析。

Type VII collagen is a structural protein within basement membrane zone and its gene defect leads to dystrophic epidermolysis bullosa. Also generation of autoantibody against type Vii collagen causes acquired epidermolysis bullosa. Thus, type VII collagen is a major protein in the field of dermatology. The purposes of this study are to establish models of those type VII collagen related diseases and make great contributions for disclosing disease mechanisms and development of new effective treatments using genetically engineered mice. In this study we could generate model mouse of dystrophic epidermolysis which can survive for long time. However, we could not detect auto antibody against type VII collagen in the model mice for acquired epidermolysis. Furthermore, we performed mutation analysis of patients with epidermolysis bullosa.