Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta

Hasegawa, Kosei; Kataoka, Kyoko; Inoue, Masato; Seino, Yoshiki; Morishima, Tsuneo; Tanaka, Hiroyuki

doi:10.1007/s00774-007-0827-z

Cited by 5 publications

(5 citation statements)

References 23 publications

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“…Impaired collagen cross-linking is a feature of bone in type I collagen defects as occurs in osteogenesis imperfect (29), and in senile osteoporosis, both collagen cross-linking and mineralization defects occur (30,31). Bone quality was significantly reduced in NHERF1-null bone (Fig.…”

Section: Discussionmentioning

confidence: 93%

Na+/H+ Exchanger Regulatory Factor 1 (NHERF1) Directly Regulates Osteogenesis

Liu

Alonso

Guo

et al. 2012

Journal of Biological Chemistry

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Background:The bone phenotype of NHERF1-null mice was ascribed to indirect actions. Results: With dietary supplementation to maintain normal serum phosphate, NHERF1-deficient mice showed aberrant bone mineralization and decreased bone quality. Osteoblast differentiation from mesenchymal stem cells was impaired. Conclusion: NHERF1 is expressed in mineralizing osteoblasts and directly regulates bone formation. Significance: We provide an experimentally validated mechanistic model of NHERF1 regulating bone formation.

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Section: Discussionmentioning

confidence: 93%

Na+/H+ Exchanger Regulatory Factor 1 (NHERF1) Directly Regulates Osteogenesis

Liu

Alonso

Guo

et al. 2012

Journal of Biological Chemistry

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“…Based on urinary collagen cross-link considerations, it has been reported that N-and C-terminal telopeptides of type I collagen tended to be lower compared with healthy controls and that pyridinoline cross-link formation at N-and C-termini was lower in patients with OI. (80) Finally, analyses of myocardial tissue from the oim animal model showed increased pyridinoline content coupled with reduced collagen concentration. (81) In the present study, at the two older tissue ages, there were no differences either between the OI patients and healthy controls or between the two groups of OI examined, in general agreement with the previously discussed biochemically determined pyridinoline content, and as expected because these two tissue ages would closely correspond to the average tissue age when tissue homogenate is analyzed.…”

Section: Discussionmentioning

confidence: 99%

“…Based on biochemical analyses (utilizing tissue homogenate, thus no tissue age discrimination) of human and animal model tissue, it has been reported that OI type I patients exhibit increased levels of dehydrodihydroxylysinonorleucine (a divalent cross‐link precursor of pyridinoline) and hydroxylysylpyridinoline (HP), whereas lysylpyridinoline (LP) values are similar to healthy controls. Based on urinary collagen cross‐link considerations, it has been reported that N‐ and C‐terminal telopeptides of type I collagen tended to be lower compared with healthy controls and that pyridinoline cross‐link formation at N‐ and C‐termini was lower in patients with OI . Finally, analyses of myocardial tissue from the oim animal model showed increased pyridinoline content coupled with reduced collagen concentration .…”

Section: Discussionmentioning

confidence: 99%

Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta

Paschalis

Gamsjaeger

Fratzl‐Zelman

et al. 2016

Journal of Bone and Mineral Research

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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 mm, 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 attributable to collagen haploinsufficiency OI type I (OI-Quant; n ¼ 11) or aberrant collagen structure (OI-Qual; n ¼ 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 ¼ 54, ages 1 to 23 years). The results indicated significant differences in bone material compositional characteristics between OI-Quant patients and healthy controls, whereas fewer were evident in the OI-Qual patients. Differences in both subgroups of OI compared with healthy children were evident for nanoporosity, mineral maturity/crystallinity as determined by maxima of the v 1 PO 4 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.

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“…As the extracellular matrix contains mostly collagen, the total space left for water between collagen molecules and mineral particles is decreased in osteogenesis imper fecta 121 , making the bone stiffer. Moreover, collagen crosslinks are altered, which is also likely to increase the brittleness of the bone tissue 122,123 .…”

Section: Box 2 | Ehlers-danlos Syndromementioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

551

582

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta

Cited by 5 publications

References 23 publications

Na+/H+ Exchanger Regulatory Factor 1 (NHERF1) Directly Regulates Osteogenesis

Na+/H+ Exchanger Regulatory Factor 1 (NHERF1) Directly Regulates Osteogenesis

Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta

Osteogenesis imperfecta

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