Institut de Recherches Cliniques de Montreal (IRCM), Montreal, QC H2W 1R7, Canada.
Departement de Medecine, Universite de Montreal, Montreal, QC H2W 1R7, Canada.
Int J Mol Sci. 2020 Aug 5;21(16):5600. doi: 10.3390/ijms21165600.
The maintenance of bone mass is a dynamic process that requires a strict balance between bone formation and resorption. Bone formation is controlled by osteoblasts, while osteoclasts are responsible for resorption of the bone matrix. The opposite functions of these cell types have to be tightly regulated not only during normal bone development, but also during adult life, to maintain serum calcium homeostasis and sustain bone integrity to prevent bone fractures. Disruption of the control of bone synthesis or resorption can lead to an over accumulation of bone tissue in osteopetrosis or conversely to a net depletion of the bone mass in osteoporosis. Moreover, high levels of bone resorption with focal bone formation can cause Paget's disease. Here, we summarize the steps toward isolation and characterization of the osteopetrosis associated trans-membrane protein 1 () gene and protein, essential for proper osteoclast maturation, and responsible when mutated for the most severe form of osteopetrosis in mice and humans.
骨量的维持是一个动态的过程，需要骨形成和吸收之间的严格平衡。骨形成由成骨细胞控制，而破骨细胞负责骨基质的吸收。这些细胞类型的相反功能不仅在正常骨发育过程中，而且在成年期也必须受到严格调节，以维持血清钙平衡并维持骨完整性，防止骨折。骨合成或吸收的控制失调可导致骨质增生症中骨组织过度积累，或者相反地导致骨质疏松症中骨量净耗竭。此外，高骨吸收水平伴局灶性骨形成可引起 Pagets 病。在这里，我们总结了分离和鉴定骨质增生相关跨膜蛋白 1 () 基因和蛋白的步骤，该蛋白对于破骨细胞的正常成熟至关重要，当其发生突变时，可导致小鼠和人类最严重形式的骨质增生症。
