Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations

Patients with osteoporosis-associated WNT1 or PLS3 mutations have unique bone histomorphometric features and osteocyte-specific hormone expression patterns. To investigate the effects of on material properties. Transiliac biopsies were evaluated by quantitative backscattered electron imaging, immunohistochemistry, histomorphometry. Ambulatory patients. Three pediatric eight adult patients mutations. Bone mineralization density distribution osteocyte protein was in 11 repeated six who underwent repeat biopsy after 24 months teriparatide treatment. expression. Children had heterogeneous matrix mineralization, consistent modeling during growth. homogenous adults increased throughout age spectrum. Teriparatide very little effect formation However, decreased trabecular lacunae size FGF23 The contrast between preserved children low turnover mineral content suggests that differential remodeling. lack change response to teriparatide, despite clear changes expression, altered may interfere coupling osteocyte, osteoblast, osteoclast function. Further studies are warranted determine mechanism these changes.