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Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.
Calcif Tissue Int. 2008 Apr; 82(4):263-70.CT

Abstract

Osteogenesis imperfecta type I (OI-I) represents the mildest form of OI. The collagen I mutations underlying the disorder can be classified as quantitative mutations that lead to formation of a decreased amount of normal collagen or qualitative mutations where structurally aberrant collagen chains are generated. However, the phenotypic consequences of a particular mutation are not well understood. Transiliac bone biopsies from 19 young OI-I patients (age range 2.0-14.1 years) and 19 age-matched controls were used to assess bone histomorphometric parameters and bone mineralization density distribution, measured by quantitative backscattered electron imaging. Thirteen of the OI-I patients were affected by quantitative and six patients by qualitative mutations. Compared to age-matched controls, iliac bone samples in the OI group were smaller and had thinner cortices and less trabecular bone. Resorption parameters were similar between groups, whereas surface-based parameters of bone formation were considerably higher in OI patients than in controls with the exception of bone formation rate per osteoblast surface, which was reduced in OI. Backscattered electron imaging revealed a higher mean mineralization density (+7%, P < 0.001) in OI-I patients than in age-matched controls, which was accompanied by a reduced heterogeneity of mineralization (-13%, P < 0.001). However, the increase of mean degree of mineralization in OI did not exceed the average level of normal adult bone. No differences were found between the two mutation types. In summary, the tissue- and material-level abnormalities found in OI-I (low bone mass and increased mineral content of the matrix) seem to be independent of the collagen mutations.

Authors+Show Affiliations

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18311573

Citation

Roschger, Paul, et al. "Evidence That Abnormal High Bone Mineralization in Growing Children With Osteogenesis Imperfecta Is Not Associated With Specific Collagen Mutations." Calcified Tissue International, vol. 82, no. 4, 2008, pp. 263-70.
Roschger P, Fratzl-Zelman N, Misof BM, et al. Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. Calcif Tissue Int. 2008;82(4):263-70.
Roschger, P., Fratzl-Zelman, N., Misof, B. M., Glorieux, F. H., Klaushofer, K., & Rauch, F. (2008). Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. Calcified Tissue International, 82(4), 263-70. https://doi.org/10.1007/s00223-008-9113-x
Roschger P, et al. Evidence That Abnormal High Bone Mineralization in Growing Children With Osteogenesis Imperfecta Is Not Associated With Specific Collagen Mutations. Calcif Tissue Int. 2008;82(4):263-70. PubMed PMID: 18311573.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. AU - Roschger,Paul, AU - Fratzl-Zelman,Nadja, AU - Misof,Barbara M, AU - Glorieux,Francis H, AU - Klaushofer,Klaus, AU - Rauch,Frank, Y1 - 2008/03/03/ PY - 2007/11/12/received PY - 2008/01/28/accepted PY - 2008/3/4/pubmed PY - 2008/7/29/medline PY - 2008/3/4/entrez SP - 263 EP - 70 JF - Calcified tissue international JO - Calcif Tissue Int VL - 82 IS - 4 N2 - Osteogenesis imperfecta type I (OI-I) represents the mildest form of OI. The collagen I mutations underlying the disorder can be classified as quantitative mutations that lead to formation of a decreased amount of normal collagen or qualitative mutations where structurally aberrant collagen chains are generated. However, the phenotypic consequences of a particular mutation are not well understood. Transiliac bone biopsies from 19 young OI-I patients (age range 2.0-14.1 years) and 19 age-matched controls were used to assess bone histomorphometric parameters and bone mineralization density distribution, measured by quantitative backscattered electron imaging. Thirteen of the OI-I patients were affected by quantitative and six patients by qualitative mutations. Compared to age-matched controls, iliac bone samples in the OI group were smaller and had thinner cortices and less trabecular bone. Resorption parameters were similar between groups, whereas surface-based parameters of bone formation were considerably higher in OI patients than in controls with the exception of bone formation rate per osteoblast surface, which was reduced in OI. Backscattered electron imaging revealed a higher mean mineralization density (+7%, P < 0.001) in OI-I patients than in age-matched controls, which was accompanied by a reduced heterogeneity of mineralization (-13%, P < 0.001). However, the increase of mean degree of mineralization in OI did not exceed the average level of normal adult bone. No differences were found between the two mutation types. In summary, the tissue- and material-level abnormalities found in OI-I (low bone mass and increased mineral content of the matrix) seem to be independent of the collagen mutations. SN - 0171-967X UR - https://www.unboundmedicine.com/medline/citation/18311573/Evidence_that_abnormal_high_bone_mineralization_in_growing_children_with_osteogenesis_imperfecta_is_not_associated_with_specific_collagen_mutations_ DB - PRIME DP - Unbound Medicine ER -