Schinke Thorsten, Schilling Arndt F, Baranowsky Anke, Seitz Sebastian, Marshall Robert P, Linn Tilman, Blaeker Michael, Huebner Antje K, Schulz Ansgar, Simon Ronald, Gebauer Matthias, Priemel Matthias, Kornak Uwe, Perkovic Sandra, Barvencik Florian, Beil F Timo, Del Fattore Andrea, Frattini Annalisa, Streichert Thomas, Pueschel Klaus, Villa Anna, Debatin Klaus-Michael, Rueger Johannes M, Teti Anna, Zustin Jozef, Sauter Guido, Amling Michael
Department of Trauma, Hand, and Reconstructive Surgery, Center for Biomechanics and Skeletal Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Nat Med. 2009 Jun;15(6):674-81. doi: 10.1038/nm.1963.
Activation of osteoclasts and their acidification-dependent resorption of bone is thought to maintain proper serum calcium levels. Here we show that osteoclast dysfunction alone does not generally affect calcium homeostasis. Indeed, mice deficient in Src, encoding a tyrosine kinase critical for osteoclast activity, show signs of osteopetrosis, but without hypocalcemia or defects in bone mineralization. Mice deficient in Cckbr, encoding a gastrin receptor that affects acid secretion by parietal cells, have the expected defects in gastric acidification but also secondary hyperparathyroidism and osteoporosis and modest hypocalcemia. These results suggest that alterations in calcium homeostasis can be driven by defects in gastric acidification, especially given that calcium gluconate supplementation fully rescues the phenotype of the Cckbr-mutant mice. Finally, mice deficient in Tcirg1, encoding a subunit of the vacuolar proton pump specifically expressed in both osteoclasts and parietal cells, show hypocalcemia and osteopetrorickets. Although neither Src- nor Cckbr-deficient mice have this latter phenotype, the combined deficiency of both genes results in osteopetrorickets. Thus, we find that osteopetrosis and osteopetrorickets are distinct phenotypes, depending on the site or sites of defective acidification.
破骨细胞的激活及其依赖酸化的骨吸收被认为可维持适当的血清钙水平。在此我们表明,仅破骨细胞功能障碍通常不会影响钙稳态。实际上,缺乏编码对破骨细胞活性至关重要的酪氨酸激酶的Src的小鼠表现出骨硬化迹象,但无低钙血症或骨矿化缺陷。缺乏编码影响壁细胞酸分泌的胃泌素受体的Cckbr的小鼠,胃酸分泌出现预期缺陷,同时伴有继发性甲状旁腺功能亢进、骨质疏松症和轻度低钙血症。这些结果表明,钙稳态的改变可能由胃酸分泌缺陷驱动,特别是考虑到补充葡萄糖酸钙可完全挽救Cckbr突变小鼠的表型。最后,缺乏编码在破骨细胞和壁细胞中特异性表达的液泡质子泵亚基的Tcirg1的小鼠表现出低钙血症和骨硬化佝偻病。虽然缺乏Src或Cckbr的小鼠均无后一种表型,但这两个基因的联合缺陷会导致骨硬化佝偻病。因此,我们发现骨硬化症和骨硬化佝偻病是不同的表型,这取决于酸化缺陷的部位。