Review
Advances in the research of osteogenesis imperfecta
Chen Jieping, Tang Dong'e, Ou Minglin, Dai Yong, Xue Wen
Published 2020-02-15
Cite as Int J Genet, 2020, 43(1): 21-26. DOI: 10.3760/cma.j.issn.1673-4386.2020.01.004
Abstract
Osteogenesis imperfecta(OI)is a hereditary bone disease of congenital skeletal development disorder with a wide spectrum of severity. The main clinical manifestations include blue sclera, bone fragility, low bone mass, recurrent fractures, dwarfism, dentin hypoplasia and hearing impairment. At present, OI has 18 subtypes and three genetic inheritance patterns including autosomal dominant, autosomal recessive, and X-linked chromosome inheritance. OI has a variety of pathogenic genes, some of which have not been typed and the pathogenesis is not fully clear. At present, there are no definite cures for OI. Clinically, bisphosphonate treatment has been used. Transforming growth factor-β monoclonal antibody and teriparatide have also been reported to increase bone density. Mesenchymal stem cells and gene editing technology as new means of targeted treatment for OI are under investigation. In order to provide strategies for OI research and treatment, this article reviews the pathogenic molecular mechanisms and treatments.
Key words:
Osteogenesis imperfect; Types; Pathogenic mechanism; Treatment
Contributor Information
Chen Jieping
College of Life Science, Guangxi Normal University, Guilin 541004, China
Department of Nephrology, Center of Organ Transplantation and Dialysis of PLA, the No. 924 hospital of the joint logistic support force of the Chinese people's liberation army
Key Laboratory of Metabolic Disease of Guangxi, Guilin 541002, China
Tang Dong'e
The Second Clinical Medical College of Jinan University, Clinical Medicine Research Center of Shenzhen People's Hospital, Shenzhen 518020, China
Ou Minglin
Department of Nephrology, Center of Organ Transplantation and Dialysis of PLA, the No. 924 hospital of the joint logistic support force of the Chinese people's liberation army
Key Laboratory of Metabolic Disease of Guangxi, Guilin 541002, China
The Second Clinical Medical College of Jinan University, Clinical Medicine Research Center of Shenzhen People's Hospital, Shenzhen 518020, China
Dai Yong
Department of Nephrology, Center of Organ Transplantation and Dialysis of PLA, the No. 924 hospital of the joint logistic support force of the Chinese people's liberation army
Key Laboratory of Metabolic Disease of Guangxi, Guilin 541002, China
The Second Clinical Medical College of Jinan University, Clinical Medicine Research Center of Shenzhen People's Hospital, Shenzhen 518020, China
Xue Wen
Department of Nephrology, Center of Organ Transplantation and Dialysis of PLA, the No. 924 hospital of the joint logistic support force of the Chinese people's liberation army
Key Laboratory of Metabolic Disease of Guangxi, Guilin 541002, China
