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Free keywords:
osteogenesis imperfecta; nanoporosity; pyridinoline; mineral maturity/crystallinity; glycosaminoglycans
Abstract:
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder characterized by bone fragility that arises from decreased bone mass and abnormalities in bone material quality. OI type I represents the milder form of the disease and according to the original Sillence classification is characterized by minimal skeletal deformities and near normal stature. Raman microspectroscopy is a vibrational spectroscopic technique that allows the determination of bone material properties in bone biopsy blocks with a spatial resolution of ∼ 1 µm, as a function of tissue age.
In the present study, we used Raman microspectroscopy to evaluate bone material quality in transiliac bone biopsies from children with a mild form of OI, either due to collagen haploinsufficiency OI type I (OI-Quant; N = 11) or aberrant collagen structure (OI-Qual; N = 5), as a function of tissue age, and compared it against the previously published values established in a cohort of biopsies from healthy children (N = 54, ages 1-23 years).
The results indicated significant differences in bone material compositional characteristics between OI-Quant patients and healthy controls, while fewer were evident in the OI-Qual patients. Differences in both subgroups of OI compared to healthy children were evident for nanoporosity, mineral maturity / crystallinity as determined by maxima of the v1PO4 Raman band, and pyridinoline (albeit in different direction) content. These alterations in bone material compositional properties most likely contribute to the bone fragility characterizing this disease. This article is protected by copyright. All rights reserved
