LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2.

Y Gong, R B Slee, N Fukai, G Rawadi, S Roman-Roman, A M Reginato, H Wang, T Cundy, F H Glorieux, D Lev, M Zacharin, K Oexle, J Marcelino, W Suwairi, S Heeger, G Sabatakos, S Apte, W N Adkins, J Allgrove, M Arslan-Kirchner, J A Batch, P Beighton, G C Black, R G Boles, L M Boon, C Borrone, H G Brunner, G F Carle, B Dallapiccola, A De Paepe, B Floege, M L Halfhide, B Hall, R C Hennekam, T Hirose, A Jans, H Jüppner, C A Kim, K Keppler-Noreuil, A Kohlschuetter, D LaCombe, M Lambert, E Lemyre, T Letteboer, L Peltonen, R S Ramesar, M Romanengo, H Somer, E Steichen-Gersdorf, B Steinmann, B Sullivan, A Superti-Furga, W Swoboda, M J van den Boogaard, W Van Hul, M Vikkula, M Votruba, B Zabel, T Garcia, R Baron, B R Olsen, M L Warman, Osteoporosis-Pseudoglioma Syndrome Collaborative Group

PMID: 11719191 DOI: 10.1016/s0092-8674(01)00571-2

Abstract

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.

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