Marks C R, Seifert M F, Marks S C
Metab Bone Dis Relat Res. 1984;5(5):259-64. doi: 10.1016/0221-8747(84)90068-7.
Osteopetrosis is a metabolic bone disease characterized by excessive accumulation of skeletal mass due to a reduction in bone resorption. The pathogenesis of osteopetrosis is reduced osteoclast function. Reports of osteoclast numbers in several mammalian mutations exhibiting osteopetrosis have shown them to be increased, decreased, or normal in numbers. The present investigation quantitated the osteoclast populations and examined the cytology of osteoclasts by light microscopy in calvarial and tibial sites in one rabbit and two mouse mutations and compared them with their normal littermates. Our observations show that osteoclast numbers are, depending on the particular mutation, increased, decreased, or comparable to those found in normal littermates. In each mutation, however, osteoclasts fail to exhibit the cytoplasmic vacuolization next to bone surfaces seen in normal osteoclasts. These data provide additional evidence of heterogeneity in the congenital mammalian osteopetrosis and suggest that these mutations may be significant sources of new information about the biology of osteoclasts.
骨质石化症是一种代谢性骨病，其特征是由于骨吸收减少导致骨骼质量过度积累。骨质石化症的发病机制是破骨细胞功能减退。在几种表现出骨质石化症的哺乳动物突变中，关于破骨细胞数量的报告显示其数量增加、减少或正常。本研究对一只兔子和两种小鼠突变体的颅骨和胫骨部位的破骨细胞群体进行了定量，并通过光学显微镜检查了破骨细胞的细胞学特征，并将它们与其正常同窝仔进行了比较。我们的观察结果表明，根据特定的突变，破骨细胞数量会增加、减少或与正常同窝仔中的数量相当。然而，在每种突变中，破骨细胞都未能表现出正常破骨细胞在骨表面附近出现的细胞质空泡化。这些数据为先天性哺乳动物骨质石化症的异质性提供了额外证据，并表明这些突变可能是有关破骨细胞生物学新信息的重要来源。
