Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Orphanet Journal of Rare Diseases

Review

Weibo Xia¹  Jiajun Zhao²  Chao Xu²  Changrong Li²  Hongjie Yu²  Huixiao Wu²  Yanzhou Wang³ 

[1] Department of Endocrinology, Key Laboratory of Endocrinology, Peking Union Medical College Hospital, National Commission of Health, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China;Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China;Shandong Institute of Endocrine and Metabolic Diseases, 250021, Jinan, Shandong, China;Shandong Engineering Research Center of Stem Cell and Gene Therapy for Endocrine and Metabolic Diseases, 250021, Jinan, Shandong, China;Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China;

关键词: Osteogenesis imperfecta;    Pathogenic mechanism;    Classification;   

DOI  :  10.1186/s13023-023-02849-5

 received in 2023-06-07, accepted in 2023-07-31,  发布年份 2023

来源: Springer

【 摘 要 】

Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previous classifications lack structure and scientific basis and have poor applicability. In this paper, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms of OI from the perspectives of type I collagen defects(synthesis defects, processing defects, post-translational modification defects, folding and cross-linking defects), bone mineralization disorders, osteoblast differentiation and functional defects respectively, and also generalize several new untyped OI-causing genes and their pathogenic mechanisms, intending to provide the evidence of classification and a scientific basis for the precise diagnosis and treatment of OI.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

【 图 表 】

Fig. 2

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