Collagen-derived markers of bone metabolism in osteogenesis imperfecta

Abstract

Markers of bone formation [C-terminal and N-terminal propeptides of procollagen I (PICP, PINP), osteocalcin and alkaline phosphatase] and bone resorption [C-terminal cross-linked telopeptide of collagen I (ICTP) and hydroxypyridinium cross-links, pyridinoline (Pyr) and deoxypyridinoline (Dpyr)] were measured in 78 osteogenesis imperfecta (OI) patients to investigate bone metabolism in vivo and relate marker concentrations to phenotype and in vitro collagen I defects, as shown by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). PICP and PINP were generally low, and the serum levels were lower in all children and adults with mild OI and a quantitative collagen defect than in patients with severe OI and a qualitative collagen I defect. ICTP, Pyr and Dpyr were generally normal or reduced, but elevated in severely affected adults with a qualitative collagen I defect. The in vivo findings correlated with in vitro results of collagen I SDS-PAGE. Bone turnover is reduced in OI children and mildly affected OI adults, whereas bone resorption is elevated in severely affected adults. These findings may prove helpful for diagnosis and decision-making regarding therapy in OI.

Osteogenesis imperfecta

“…[ 11 ] Markers of bone formation (C-terminal propeptide of Type I procollagen) may be lower, and markers of bone resorption (C-telopeptide of Type I collagen) can be higher in OI, particularly in severely affected patients. [ 12 ] Collagen synthesis analysis is performed by culturing dermal fibroblasts obtained during skin biopsy. Abnormalities either in quantity or quality of Type I collagen are found in 90% of OI.…”