Ⅰ型胶原编码基因突变致成骨不全症动物模型

Animal models of osteogenesis imperfecta caused by encoding genes of typeⅠcollagen mutation

成骨不全症(osteogenesis Imperfecta,OI)是一类以低骨量、骨脆性及骨骼畸形为特征的单基因遗传性骨病,研究其病理生理学机制和有效治疗方法的关键是动物模型的应用。绝大部分OI由编码Ⅰ型胶原相关基因突变引起,本文总结了COL1A1和COL1A2突变的主要动物模型,这些模型是研究致病机制、开发和测试新的治疗策略的宝贵工具。未来的研究将运用CRISPR/Cas9等新型基因编辑技术,结合多种生物类别,优化和拓展OI动物模型,更好地模拟人类疾病,有助于对OI及其治疗方法的深入探索。

Osteogenesis imperfecta(OI)is a single gene hereditary osteopathy characterized by low bone mass,bone fragility and bone deformity.The key to study its pathophysiology mechanism and effective treatment is the application of animal models.The majority of osteogenesis imperfecta is caused by mutations in genes encoding type Ⅰ collagen.This review summarizes the main animal models of COL1A1 and COL1A2 mutations,which are valuable tools to study the pathogenesis,develop and test new therapeutic strategies.Future research will utilize new gene editing techniques such as CRISPR/Cas9,combined with multiple biological categories,to optimize and expand OI animal models,in order to better simulate human diseases and contribute to the in-depth exploration of OI and its treatment methods.