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Context

Osteocytes express proteins that regulate bone remodeling and mineralization.

Objective

To evaluate the relationship between osteocyte-specific protein expression and bone histology in patients with monogenic osteoporosis due to wingless integration site 1 (WNT1) or plastin 3 (PLS3) mutations.

Design and setting

Cross-sectional cohort study at a university hospital.

Participants

Six patients (four males; ages: 14 to 72 years) with a heterozygous WNT1 mutation and five patients (four males; ages: 9 to 70 years) with a heterozygous/hemizygous PLS3 mutation.

Methods and main outcome measures

Immunohistochemistry was performed for fibroblast growth factor 23 (FGF23), dentin matrix protein 1 (DMP1), sclerostin, and phosphorylated (phospho-)β-catenin in iliac crest samples and compared with bone histomorphometry.

Results

FGF23 expression in WNT1 patients was 243% that observed in PLS3 patients (P < 0.01). DMP1, sclerostin, and phospho-β-catenin expression did not differ between groups. Serum phosphate correlated inversely with FGF23 expression (r = -0.79, P = 0.01) and serum ionized calcium correlated inversely with sclerostin expression (r = -0.60, P = 0.05). Phospho-β-catenin expression correlated inversely with DMP1 expression (r = -0.88, P < 0.001), osteoid volume/bone volume (r = -0.68, P = 0.02), and bone formation rate (r = -0.78, P < 0.01). FGF23 expression did not correlate with DMP1 expression, sclerostin expression, or bone histomorphometry. Marrow adiposity was higher in WNT1 than in PLS3 patients (P = 0.04).

Conclusions

Mutations that disrupt WNT signaling and osteocytic mechanosensing affect osteocyte protein expression. Abnormal osteocyte function may play a role in the pathogenesis of monogenetic forms of osteoporosis."xsd:string
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http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Makitie O."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Laine C.M."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Laine T."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Valimaki M.J."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Pereira R.C."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Valimaki V.V."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Wesseling-Perry K."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/author"Makitie R.E."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/name"J Clin Endocrinol Metab"xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/pages"2340-2348"xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/title"Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3."xsd:string
http://purl.uniprot.org/citations/28379384http://purl.uniprot.org/core/volume"102"xsd:string
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