Correlative Raman spectroscopy and electron microscopy identifies glycogen rich deposits correlated with local structural defects in long bones of type IV osteogenesis imperfecta patients.

Autor: Van der Meijden RHM; Department of Medical BioSciences, Radboudumc, 6525 GA Nijmegen, the Netherlands; Electron Microscopy Center, Radboudumc, 6525 GA Nijmegen, the Netherlands., Scholten MH; Department of Medical BioSciences, Radboudumc, 6525 GA Nijmegen, the Netherlands., Nijhuis WH; Department of Orthopedic Surgery, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands., Sakkers RJB; Department of Orthopedic Surgery, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands., Sommerdijk N; Department of Medical BioSciences, Radboudumc, 6525 GA Nijmegen, the Netherlands; Electron Microscopy Center, Radboudumc, 6525 GA Nijmegen, the Netherlands. Electronic address: nico.sommerdijk@radboudumc.nl., Akiva A; Department of Medical BioSciences, Radboudumc, 6525 GA Nijmegen, the Netherlands; Electron Microscopy Center, Radboudumc, 6525 GA Nijmegen, the Netherlands. Electronic address: anat.akiva@radboudumc.nl.
Jazyk: angličtina
Zdroj: Journal of structural biology [J Struct Biol] 2024 Oct 22; Vol. 216 (4), pp. 108142. Date of Electronic Publication: 2024 Oct 22.
DOI: 10.1016/j.jsb.2024.108142
Abstrakt: Osteogenesis imperfecta (OI) is a genetic bone disease occurring in approximately 1 in 10,000 births, usually as a result of genetic mutation. OI patients suffer from increased fracture risk and - depending on the severity of the disease - deformation of the limbs, which can even lead to perinatal death. Despite extensive studies, the way in which the genetic mutation is translated into structural and compositional anomalies of the tissue is still an open question. Different observations have been reported, ranging from no structural (or chemical) differences to completely chaotic bone structure and composition. Here, we investigated bone samples from two adolescent OI-IV patients, focusing on the bone structure and chemistry in naturally occurring fractures. The exposed fracture plane allows the investigation of the structure and composition of the weakest bone plane. We do so by combining scanning electron microscopy (SEM) imaging with chemical information from Raman microscopy. The exposed fracture planes show different regions within the same tissue, displaying normal osteonal structures next to disorganized osteons and totally disordered structures, while the collagen mineralization in all cases is similar to that of a healthy bone. In addition, we also detected significant amounts of depositions of glycogen-rich, organic, globules of 250-1000 nm in size. These depositions point to a role of cellular disfunction in the disorganization of the collagen in qualitative OI. Overall, our results unite multiple, sometimes contradicting views from the literature on qualitative OI.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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