成骨不全症的干细胞与基因治疗

Stem cell and gene therapy in osteogenesis imperfecta

成骨不全症(osteogenesis imperfecta,OI)是以反复脆性骨折和骨骼畸形为主要特征的单基因遗传性骨病,可造成严重的残疾甚至死亡。干细胞治疗是将同种异体间充质干细胞(mesenchymal stem cells,MSCs)移植到OI患者体内或者行子宫内移植,使正常的MSCs在患者体内增殖分化形成正常的胶原和骨组织从而达到治疗目的。基因治疗是利用基因靶向技术或者基因编辑技术修复或沉默突变基因,将严重OI转变为轻度OI或表型正常。国外关于OI的干细胞和基因治疗已有多年历史及大量文献报道,本文就OI的干细胞和基因治疗研究进展作一综述,以供相关基础研究和临床工作者参考。

Osteogenesis imperfecta(OI)is a monogenetic skeletal disease characterized by repeated brittle fractures and bone deformities,which can cause severe disability,even death.Stem cell therapy is the transplantation of mesenchymal stem cells(MSCs)into OI patients or in utero transplantation(IUT),so that normal MSCs will proliferate in the patient s body and differentiate into normal collagen and bone tissue.Gene therapy is the use of gene targeting or gene editing techniques to repair or silence mutant genes,turning severe phenotype into mild or normal phenotype.At present,stem cell and gene therapy about OI had a large number of literature reports,so we make a review about the progress of stem cell and gene therapy in OI.