Stem-cell Based Therapy for Pseudoxanthoma Elasticum

描述（由申请人提供）：拟研究的总体目标是开发弹性假性黄瘤（PXE）的分子疗法，这是一种影响皮肤、眼睛和心血管系统的多效性多系统疾病，伴有软结缔组织（主要是弹性结构）的进行性病理性矿化。这种遗传性疾病是由ABCC6基因突变引起的，该基因在肝脏和肾脏中高度表达，并作为代谢跨膜转运蛋白。我们最近使用PXE小鼠移植和异种共生模型的研究证实了PXE的代谢性质（见初步研究）。然而，到目前为止，PXE还没有治愈或有效的治疗方法。

DESCRIPTION (provided by applicant): The overall objective of the proposed research is to develop molecular therapies for pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, the eyes, and the cardiovascular system with progressive pathological mineralization of soft connective tissues, primarily the elastic structures. This heritable disease is caused by mutations in the ABCC6 gene, which is highly expressed in the liver and the kidneys and serves as a metabolic transmembrane transporter. The metabolic nature of PXE has been proven by our recent studies using a PXE mouse grafting and parabiosis models (see Preliminary Studies). However, there is no cure or effective treatment for PXE so far.