Advances in musculoskeletal lesions and energy metabolism abnormality in osteogenesis imperfecta
10.3760/cma.j.issn.1673-4408.2024.02.011
- VernacularTitle:成骨不全症中骨骼肌肉病变及能量代谢异常的研究进展
- Author:
Jinpeng ZHENG
1
;
Wei WU
Author Information
1. 浙江大学医学院附属儿童医院内分泌科，杭州 310051
- Keywords:
Osteogenesis imperfecta;
Muscle;
Osteocalcin;
Adipose tissue;
Energy metabolism
- From:
International Journal of Pediatrics
2024;51(2):115-118
- CountryChina
- Language:Chinese
-
Abstract:
Osteogenesis imperfecta（OI）is a hereditary connective tissue disease，and roughly 85% of the patients are caused by heterozygous mutations in COL1A1 and COL1A2，the coding genes of type Ⅰcollagen. Primary symptomatic manifestations of OI are low bone mass，frequent fractures and skeletal deformity，and other symptoms include blue sclera，dentinogenesis imperfecta，hyperlaxity of joint and ligaments，short stature and hearing impairment. Some patients may have muscle weakness，obesity and other symptoms，and the systemic low-grade inflammation and changes in bone microenvironment caused by obesity may have more negative effects on OI bones. The occurrence of obesity in OI patients may be related to energy metabolism abnormalities caused by multiple factors such as reduced activity，abnormal muscle fat metabolism，and diverse genotypes. Currently，there is a lack of large sample data on the incidence of obesity，and exploring the mechanism of skeletal-muscle interaction and energy metabolism regulation is of great significance for OI related obesity prevention and treatment.
