Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

Fratzl‐Zelman, Nadja; Roschger, Paul; Misof, Barbara M.; Pfeffer, S.; Glorieux, Francis H.; Klaushofer, Klaus; Rauch, Frank

doi:10.1016/j.bone.2009.02.021

Cited by 85 publications

(141 citation statements)

References 28 publications

Supporting

Mentioning

126

Contrasting

Order By: Relevance

“…(24) Results were compared to a pediatric reference data base that we have established. (25) Sequencing Whole exome library preparation, capturing, sequencing and bioinformatics analyses were performed at Genome Quebec Innovation Center, Montreal, Canada, as detailed. (26) Briefly, genomic DNA (3 mg) of each study participant was captured using the SureSelect Human All Exon Kit version 3 (Agilent Technologies, Inc., Santa Clara, CA, USA) and subsequently sequenced on an Illumina (San Diego, CA, USA) Hiseq2000 sequencer with pairedend 100-base pair reads.…”

Section: Anthropometrymentioning

confidence: 99%

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics

Fahiminiya

Majewski

Al-Jallad

et al. 2014

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

Mutations in PLS3 have been identified as a cause of bone fragility in children, but the bone phenotype associated with PLS3 mutations has not been reported in detail. PLS3 is located on the X chromosome and encodes the actin-binding protein plastin 3. Here we describe skeletal findings in 4 boys from 2 families with mutations in PLS3 (c.994_995delGA; p.Asp332 Ã in family 1; c.1433T > C; p. Leu478Pro in family 2). When first evaluated between 4 and 8 years of age, these boys had a history of one to four long-bone fractures. Mild vertebral compression fractures were identified in each boy. No obvious extraskeletal disease manifestations were present. Lumbar spine areal bone mineral density (LS-aBMD) Z-scores ranged from -1.7 to -3.5, but height was normal. Iliac bone histomorphometry in 2 patients showed low trabecular bone volume and a low osteoid maturation time but normal bone formation rate and osteoclast surface. Quantitative backscattered electron imaging (qBEI) did not reveal a major abnormality in bone mineralization density distribution. The 2 boys from family 1 received oral alendronate for 6 years, which normalized LS-aBMD. The mothers of the 4 boys did not have a history of fractures and had normal LS-aBMD. However, one of these mothers had low bone mass at the distal radius, as measured by peripheral quantitative computed tomography (pQCT). In conclusion, hemizygous mutations in PLS3 are associated with osteoporosis and bone fragility in childhood, but in contrast to bone fragility caused by mutations in collagen type I encoding genes, there is no hypermineralization of mineralized bone matrix.

show abstract

Section: Anthropometrymentioning

confidence: 99%

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics

Fahiminiya

Majewski

Al-Jallad

et al. 2014

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

show abstract

“…Mice were examined for changes in BMDD parameters CaMean, CaPeak, CaWidth, CaLow, and CaHigh reflecting bone turnover, mineralization kinetics, and average bone matrix age (40,51) (Table 2 and Fig. 15).…”

Section: Sfn Has Anabolic and Antiresorptive Effects On Bone Homeostamentioning

confidence: 99%

Anabolic and Antiresorptive Modulation of Bone Homeostasis by the Epigenetic Modulator Sulforaphane, a Naturally Occurring Isothiocyanate

Thaler

Maurizi

Roschger

et al. 2016

Journal of Biological Chemistry

View full text Add to dashboard Cite

Bone degenerative pathologies like osteoporosis may be initiated by age-related shifts in anabolic and catabolic responses that control bone homeostasis. Here we show that sulforaphane (SFN), a naturally occurring isothiocyanate, promotes osteoblast differentiation by epigenetic mechanisms. SFN enhances active DNA demethylation via Tet1 and Tet2 and promotes preosteoblast differentiation by enhancing extracellular matrix mineralization and the expression of osteoblastic markers (Runx2, Col1a1, Bglap2, Sp7, Atf4, and Alpl). SFN decreases the expression of the osteoclast activator receptor activator of nuclear factor-B ligand (RANKL) in osteocytes and mouse calvarial explants and preferentially induces apoptosis in preosteoclastic cells via up-regulation of the Tet1/Fas/Caspase 8 and Caspase 3/7 pathway. These mechanistic effects correlate with higher bone volume (ϳ20%) in both normal and ovariectomized mice treated with SFN for 5 weeks compared with untreated mice as determined by microcomputed tomography. This effect is due to a higher trabecular number in these mice. Importantly, no shifts in mineral density distribution are observed upon SFN treatment as measured by quantitative backscattered electron imaging. Our data indicate that the food-derived compound SFN epigenetically stimulates osteoblast activity and diminishes osteoclast bone resorption, shifting the balance of bone homeostasis and favoring bone acquisition and/or mitigation of bone resorption in vivo. Thus, SFN is a member of a new class of epigenetic compounds that could be considered for novel strategies to counteract osteoporosis.

show abstract

“…The BMD density distribution in trabecular and cortical bone from this sample was analyzed by quantitative backscattered electron imaging, as described elsewhere (22). Results were compared to the average values of a normative young reference data base established previously (23).…”

Section: Analyses Of Iliac Bonementioning

confidence: 99%

Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets

Cheung

Roschger

Klaushofer

et al. 2013

The Journal of Clinical Endocrinology &Amp; Metabolism

View full text Add to dashboard Cite

Context: X-linked hypophosphatemic rickets is caused by mutations in PHEX. Even though the disease is characterized by disordered skeletal mineralization, detailed bone densitometric studies are lacking.Objective: The aim of the study was to assess volumetric bone mineral density (vBMD) in X-linked hypophosphatemic rickets using forearm peripheral quantitative computed tomography. Setting:The study was conducted in the metabolic bone clinic of a pediatric orthopedic hospital.Patients: Thirty-four patients (age, 6 to 60 years; 24 female) with PHEX mutations were studied, of whom 7 children (age, 6 to 11 years) were actively being treated with calcitriol and phosphate supplementation. Twenty-one patients (age, 16 to 40 years) had received the same therapy before but had discontinued the treatment; 6 patients (age, 12 to 60 years) had never received this treatment. Main Outcome Measures: Trabecular and cortical vBMD of the radius.Results: Trabecular vBMD was elevated (mean age-specific and sex-specific z-score: ϩ1.0) when all patients were analyzed together, due to very high results in currently treated patients (mean z-score: ϩ2.4) and slightly above-average mean values in the other patients. Cortical vBMD was low when the entire cohort was analyzed together (mean z-score: Ϫ3.3), but was higher in currently treated patients (mean z-score: Ϫ1.3) than in patients who had discontinued therapy (mean zscore: Ϫ3.8) or who had never been treated (mean z-score: Ϫ4.1). Conclusions:Patients with PHEX mutations have elevated trabecular vBMD at the distal radius while receiving calcitriol and phosphate supplementation, but low cortical vBMD at the radius diaphysis. Low cortical vBMD presumably reflects the underlying mineralization defect that is not entirely corrected by current treatment approaches. (J Clin Endocrinol Metab 98: E954 -E961, 2013) H ereditary hypophosphatemic rickets is characterized by hypophosphatemia due to renal phosphate wasting, resulting in leg deformities and short stature (1, 2). Hypophosphatemic rickets is most commonly caused by mutations in the phosphate-regulating endopeptidase gene (PHEX), transmitted as an X-linked trait (X-linked hypophosphatemic rickets, XLH) (1, 3, 4).The current treatment for XLH consists of oral phosphate supplementation and calcitriol and aims at maximizing growth and preventing bone deformities (1, 2). Because these main benefits are dependent on skeletal growth and the treatment schedule is quite burdensome, therapy is often discontinued once final height is achieved. Abbreviations: BMD, bone mineral density; LS-aBMD, lumbar spine areal bone mineral density; pQCT, peripheral quantitative computed tomography; vBMD, volumetric bone mineral density; XLH, X-linked hypophosphatemic rickets.

show abstract

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

Cited by 85 publications

References 28 publications

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics

Anabolic and Antiresorptive Modulation of Bone Homeostasis by the Epigenetic Modulator Sulforaphane, a Naturally Occurring Isothiocyanate

Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets

Contact Info

Product

Resources

About