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

Y Gong, RB Slee, N Fukai, G Rawadi… - Cell, 2001 - cell.com
Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, H Wang, T Cundy…
Cell, 2001cell.com
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 …
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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