OI Research Update:
Abnormal lung function in osteogenesis imperfecta due to both intrinsic and extrinsic causes
Gochuico et al. (2023) J Med Genet May 16:jmg-2022-109009. Doi:10.1136/jmg-2022-109009
Lung disease is the major cause of illness and death in individuals with osteogenesis imperfecta (OI), a collagen-related bone fragility disorder. Previously, external factors such as scoliosis and chest wall deformities were considered responsible for abnormal lung function in OI. Prior data from the NIH USA OI Research Program lead by Dr Joan Marini showed that pulmonary function declined with age even in children who did not have scoliosis, suggesting an intrinsic component for OI lung disease (Thiele et al, Human Mol Genet. (2012) 21(16):3535-45), that is, a defect directly in the respiratory system itself.
In this investigation, we studied 37 children and young adults with several types of OI, 29 of whom have structural mutations in type I collagen. Type I collagen is a component of lung parenchyma as well as the major matrix protein of bone. Study participants underwent lung function tests, X-Rays and CTs of lung tissue. Most patients had restrictive lung disease and decreased gas exchange, independent of scoliosis. Analysis of chest scans and breathing tests showed thickening of the walls of small airways and lung tissue abnormalities. We conclude that OI also causes intrinsic lung disease that negatively impacts Quality of Life (QOL) in OI. Further study of intrinsic lung abnormalities may lead to improved treatment options and improve QOL.
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