成骨不全症干细胞和基因治疗研究进展  

Advances in stem cell-based therapy and gene therapy for osteogenesis imperfecta

作　　者：胡静 沈敏 李梅 HU Jing;SHEN Min;LI Mei(Department of Endocrinology,Key Laboratory of Endocrinology of National Health and Family Planning Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Science,Peking Union Medical College,Beijing 100730,China;Department of Rare Diseases,State Key Laboratory for Complex,Severe,and Rare Diseases,Peking Union Medical College Hospital,Peking Union Medical College&Chinese Academy of Medical Science,Beijing 100730,China)

机构地区：[1]中国医学科学院、北京协和医学院、北京协和医院内分泌科、国家卫生健康委员会内分泌重点实验室,北京100730 [2]中国医学科学院、北京协和医学院、北京协和医院罕见病医学科、疑难重症及罕见病国家重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2024年第4期397-402,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家重点研发计划(2021YFC2501700);国家自然科学基金面上项目(82070908,82370894);中国医学科学院医学与健康科技创新工程项目(2021-I2M-1-051);“专科提升项目”:中央高水平医院临床科研业务费资助(2022-PUMCH-B-014)。

摘　　要：成骨不全症(osteogenesis imperfecta,OI)是以骨脆性增加和反复骨折为特征的单基因遗传性骨病。现有药物治疗仅为对症治疗,疗效有限,难以有效改善患者的骨骼质量。干细胞治疗和基因治疗作为靶向OI致病机制的新型治疗策略,具有从病因上显著改善疾病预后的潜力。本文综述干细胞治疗和基因治疗OI的基础和临床研究进展,旨在探讨这些治疗策略的应用潜力以及临床转化中的挑战。Osteogenesis imperfecta(OI)is a monogenic bone disorder,characterized by bone fragility and recurrent fractures.Current pharmacological treatments have limited efficacy in improving the skeletal phenotype and bone quality.Stem cell-based therapy and gene therapy are novel treatment strategies targeting the underlying molecular defects of OI,holding the promising potential to improve the prognosis of the disease by addressing its cause.This review summarizes the advances in basic and clinical research on stem cell-based therapy and gene therapy for OI,to discuss the application potential of these innovative treatment strategies for OI and the challenges associated with their clinical translation.

关 键 词：成骨不全症 干细胞治疗 间充质干细胞移植 基因治疗 

分 类 号：R681[医药卫生—骨科学]