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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

2001; Cell Press; Volume: 107; Issue: 4 Linguagem: Inglês

10.1016/s0092-8674(01)00571-2

1097-4172

Yaoqin Gong, Roger B. Slee, N Fukai, Georges Rawadi, Sergio Román-Román, Anthony M. Reginato, Haoyu Wang, Tim Cundy, F. H. Glorieux, D. Lev, Margaret Zacharin, Konrad Oexle, J. R. Marcelino, W. Suwairi, Shauna Heeger, G. Sabatakos, Suneel Apte, William N. Adkins, Jeremy Allgrove, Mine Arslan‐Kirchner, Jennifer Batch, Peter Beighton, Graeme Black, Richard G. Boles, Laurence M. Boon, C Borrone, HG Brunner, Georges F. Carle, Bruno Dallapiccola, Anne De Paepe, B. Floege, M. L. Halfhide, B. Hall, Raoul C. M. Hennekam, Takuo Hirose, Anneke Jans, Harald Jüppner, Chong Ae Kim, Kim M. Keppler‐Noreuil, A. Kohlschuetter, Didier Lacombe, Max Norman Tandrup Lambert, Emmanuelle Lemyre, Tom G.W. Letteboer, L. Peltonen, Raj Ramesar, Marta Romanengo, Hannu Somer, Elisabeth Steichen‐Gersdorf, B Steinmann, Benjamin D. Sullivan, Andrea Superti‐Furga, Walter Swoboda, M. J. van den Boogaard, Wim Van Hul, Miikka Vikkula, Marcela Votruba, B. Zabel, Teresa García, Roland Baron, Bjørn R. Olsen, Matthew L. Warman,

Bone Metabolism and Diseases

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). We find that OPPG carriers have reduced bone mass when compared to age- and gender-matched controls. We demonstrate LRP5 expression by osteoblasts in situ and show that LRP5 can transduce Wnt signaling in vitro via the canonical pathway. We further show that a mutant-secreted form of LRP5 can reduce bone thickness in mouse calvarial explant cultures. These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass.