Urano Tomohiko
Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Japan.
Clin Calcium. 2006 Jan;16(1):54-60.
The Wnt-beta-catenin signaling pathway is involved in cell proliferation, differentiation and morphogenesis. Recently, mutations of the low-density lipoprotein receptor-related protein 5 (LRP5 ) gene, a receptor of this signaling, have been described to be associated with both osteoporosis-pseudoglioma syndrome and the high bone mass phenotype. It was found that the loss of function of the LRP5 in both human and mice yielded a decrease in bone formation, and an active mutation in this same gene resulted in a high bone mass trait. Moreover, several groups and we reported that single nucleotide polymorphisms in the LRP5 gene predicted the bone mass. This pathway also affects the pathogenesis of osteoarthritis and multiple myeloma. These findings indicate that Wnt-beta-catenin signaling pathway plays important roles in the skeletal biology.
Wnt-β-连环蛋白信号通路参与细胞增殖、分化和形态发生。最近，已描述该信号通路的受体——低密度脂蛋白受体相关蛋白5（LRP5）基因的突变与骨质疏松-假性神经胶质瘤综合征和高骨量表型均相关。研究发现，人和小鼠中LRP5功能缺失均导致骨形成减少，而该基因的一个活性突变则导致高骨量性状。此外，多个研究团队以及我们都报道过LRP5基因中的单核苷酸多态性可预测骨量。该信号通路还影响骨关节炎和多发性骨髓瘤的发病机制。这些发现表明，Wnt-β-连环蛋白信号通路在骨骼生物学中发挥着重要作用。
