Orthopedic Research Laboratories, Department of Orthopedic Surgery, Children's Hospital, Boston, Massachusetts, USA.
Nat Med. 2011 Jun;17(6):684-91. doi: 10.1038/nm.2388. Epub 2011 May 22.
The human skeleton is affected by mutations in low-density lipoprotein receptor-related protein 5 (LRP5). To understand how LRP5 influences bone properties, we generated mice with osteocyte-specific expression of inducible Lrp5 mutations that cause high and low bone mass phenotypes in humans. We found that bone properties in these mice were comparable to bone properties in mice with inherited mutations. We also induced an Lrp5 mutation in cells that form the appendicular skeleton but not in cells that form the axial skeleton; we observed that bone properties were altered in the limb but not in the spine. These data indicate that Lrp5 signaling functions locally, and they suggest that increasing LRP5 signaling in mature bone cells may be a strategy for treating human disorders associated with low bone mass, such as osteoporosis.
人类骨骼受载脂蛋白 LDL 受体相关蛋白 5(LRP5)突变的影响。为了了解 LRP5 如何影响骨骼特性,我们生成了骨细胞特异性表达可诱导 Lrp5 突变的小鼠,这些突变可导致人类出现高骨量和低骨量表型。我们发现这些小鼠的骨骼特性与具有遗传突变的小鼠的骨骼特性相当。我们还在形成附肢骨骼的细胞中诱导 Lrp5 突变,但不在形成轴骨骼的细胞中诱导;我们观察到肢体的骨骼特性发生了改变,但脊柱没有。这些数据表明 Lrp5 信号在局部起作用,并表明增加成熟骨细胞中的 LRP5 信号可能是治疗与低骨量相关的人类疾病(如骨质疏松症)的一种策略。