Universität zu Köln

Hoyer-Kuhn, Heike, Semler, Oliver ORCID: 0000-0003-0029-7556, Schoenau, Eckhard, Roschger, Paul, Klaushofer, Klaus and Rauch, Frank ORCID: 0000-0002-6261-0360 (2013). Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation. Calcif. Tissue Int., 93 (6). S. 565 - 571. NEW YORK: SPRINGER. ISSN 1432-0827

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Abstract

Recently, homozygous mutations in BMP1 were identified as a cause of bone fragility in children with high areal bone mineral density. We examined iliac bone tissue from a 12-year-old boy with a homozygous mutation that leads to a p.Gly12Arg change in the signal peptide of BMP1, an enzyme that cleaves C-propeptide off the procollagen type I molecule. Histomorphometric analyses revealed marked hyperosteoidosis, with osteoid volume per bone volume at approximately 11 SD above the mean value for controls. At the same time, quantitative backscattered electron imaging showed drastic hypermineralization of mineralized bone matrix. Ca-Peak, representing the most frequently observed calcium content of mineralized matrix in trabecular bone, was 9 SD above the mean for the control population, corresponding to a 21 % higher calcium content in the patient specimen than in the average control sample. These results are similar to those that were previously reported in an individual who had a mutation in the C-propeptide cleavage site of procollagen type I. It thus appears that disturbed C-propeptide cleavage impairs mineralization in two ways: first, the onset of mineralization is delayed, leading to an increased amount of unmineralized osteoid, and second, once mineralization starts, too much mineral is incorporated into the bone matrix, resulting in hypermineralization.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hoyer-Kuhn, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED orcid.org/0000-0003-0029-7556 UNSPECIFIED Schoenau, Eckhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Roschger, Paul UNSPECIFIED UNSPECIFIED UNSPECIFIED Klaushofer, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED Rauch, Frank UNSPECIFIED orcid.org/0000-0002-6261-0360 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-471152
DOI:	10.1007/s00223-013-9799-2
Journal or Publication Title:	Calcif. Tissue Int.
Volume:	93
Number:	6
Page Range:	S. 565 - 571
Date:	2013
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-0827
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MINERALIZATION DENSITY DISTRIBUTION; OSTEOGENESIS IMPERFECTA; INTRAVENOUS PAMIDRONATE; I COLLAGEN; CHILDREN; ADOLESCENTS; MASS; PROPEPTIDE Multiple languages Endocrinology & Metabolism Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47115