Stem-cell Based Therapy for Pseudoxanthoma Elasticum

弹力假黄瘤的干细胞疗法

• 批准号: 8290499
• 负责人: Qiujie Jiang
• 金额: $ 11.66万
• 依托单位: THOMAS JEFFERSON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-07-01 至 2014-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8290499
• 关键词: Affect; Area; Cardiovascular system; Cell Therapy; Cells; Connective and Soft Tissue; Disease; Engraftment; Eye; Future; Genes; Human; Immunodeficient Mouse; Investigation; Kidney; Lead; Liver; Metabolic; Modeling; Molecular; Mus; Mutation; Nature; Parabiosis; Patients; Phenotype; Prevention; Process; Pseudoxanthoma Elasticum; Research; Role; Site; Skin; Stem cells; Structure; Time; Tissues; base; effective therapy; improved; in vivo; liver transplantation; mineralization; molecular pathology; reconstitution; research study; stem cell differentiation

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.

描述（由申请人提供）：拟议研究的总体目标是开发弹性假黄瘤（PXE）的分子疗法，PXE是一种影响皮肤、眼睛和心血管系统的多效性多系统疾病，伴有软结缔组织进行性病理矿化，主要是弹性结构。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表达，充当代谢跨膜转运蛋白。我们最近使用 PXE 小鼠移植和联体共生模型的研究已经证明了 PXE 的代谢性质（参见初步研究）。然而，迄今为止，PXE 还没有治愈或有效的治疗方法。