Advances in musculoskeletal lesions and energy metabolism abnormality in osteogenesis imperfecta / 国际儿科学杂志

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.