Valverde-Franco Gladys, Liu Hanlong, Davidson David, Chai Sen, Valderrama-Carvajal Hector, Goltzman David, Ornitz David M, Henderson Janet E
Department of Medicine and Centre for Bone and Periodontal Research, McGill University, Royal Victoria Hospital, 687 Pine Avenue West, Montreal, Quebec, Canada H3A 1A1.
Hum Mol Genet. 2004 Feb 1;13(3):271-84. doi: 10.1093/hmg/ddh034. Epub 2003 Dec 17.
Mutations that cause constitutive activation of fibroblast growth factor receptor 3 (FGFR3) result in skeletal disorders that are characterized by short-limbed dwarfism and premature closure of cranial sutures. In previous work, it was shown that congenital deficiency of FGFR3 led to skeletal overgrowth. Using a combination of imaging, classic histology and molecular cell biology we now show that young adult FGFR3(-/-) mice are osteopenic due to reduced cortical bone thickness and defective trabecular bone mineralization. The reduction in mineralized bone and lack of trabecular connectivity observed by micro-computed tomography were confirmed in histological and histomorphometric analyses, which revealed a significant decrease in calcein labelling of mineralizing surfaces and a significant increase in osteoid in the long bones of 4-month-old FGFR3(-/-) mice. These alterations were associated with increased staining for recognized markers of differentiated osteoblasts and increased numbers of tartrate-resistant acid phsophatase postitive osteoclasts. Primary cultures of adherent bone marrow-derived cells from FGFR3(-/-) mice expressed markers of differentiated osteoblasts but developed fewer mineralized nodules than FGFR3(+/+) cultures of the same age. Our observations reveal a role for FGFR3 in post-natal bone growth and remodelling, which identifies it as a potential therapeutic target for osteopenic disorders and those associated with defective bone mineralization.
导致成纤维细胞生长因子受体3(FGFR3)组成性激活的突变会引发骨骼疾病,其特征为短肢侏儒症和颅缝过早闭合。在先前的研究中,已表明FGFR3先天性缺陷会导致骨骼过度生长。我们现在通过结合影像学、经典组织学和分子细胞生物学方法表明,年轻的成年FGFR3基因敲除(FGFR3(-/-))小鼠存在骨质减少,原因是皮质骨厚度降低和小梁骨矿化缺陷。显微计算机断层扫描观察到的矿化骨减少和小梁连接性缺失在组织学和组织形态计量学分析中得到证实,这些分析显示,4个月大的FGFR3(-/-)小鼠长骨中矿化表面的钙黄绿素标记显著减少,类骨质显著增加。这些改变与分化成骨细胞公认标志物的染色增加以及抗酒石酸酸性磷酸酶阳性破骨细胞数量增加有关。来自FGFR3(-/-)小鼠的贴壁骨髓来源细胞的原代培养物表达了分化成骨细胞的标志物,但与相同年龄的FGFR3基因野生型(FGFR3(+/+))培养物相比,形成的矿化结节更少。我们的观察结果揭示了FGFR3在出生后骨骼生长和重塑中的作用,这使其成为骨质减少症以及与骨矿化缺陷相关疾病的潜在治疗靶点。