Miao Dengshun, He Bin, Lanske Beate, Bai Xiu-Ying, Tong Xin-Kang, Hendy Geoffrey N, Goltzman David, Karaplis Andrew C
Calcium Research Laboratory, Department of Medicine, McGill University Health Centre and Royal Victoria Hospital, McGill University, Montreal, Canada.
Endocrinology. 2004 Apr;145(4):2046-53. doi: 10.1210/en.2003-1097. Epub 2003 Dec 30.
We have examined the role of PTH in the postnatal state in a mouse model of PTH deficiency generated by targeting the Pth gene in embryonic stem cells. Mice homozygous for the ablated allele, when maintained on a normal calcium intake, developed hypocalcemia, hyperphosphatemia, and low circulating 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)] levels consistent with primary hypoparathyroidism. Bone turnover was reduced, leading to increased trabecular and cortical bone volume in PTH-deficient mice. When mutant mice were placed on a low-calcium diet, renal 25-hydroxyvitamin D 1 alpha-hydroxylase expression increased despite the absence of PTH, leading to a rise in circulating 1,25(OH)(2)D(3) levels, marked osteoclastogenesis, and profound bone resorption. These studies demonstrate the dependence of the skeletal phenotype in animals with genetically depleted PTH on the external environment as well as on internal hormonal and ionic circulatory factors. They also show that, although PTH action is the first defense against hypocalcemia, 1,25(OH)(2)D(3) can be mobilized, even in the absence of PTH, to guard against extreme calcium deficiency.
我们通过在胚胎干细胞中靶向Pth基因,构建了甲状旁腺激素(PTH)缺乏的小鼠模型,研究了PTH在出生后状态中的作用。纯合缺失等位基因的小鼠,在正常钙摄入情况下,出现了低钙血症、高磷血症以及循环中1,25-二羟维生素D(3)[1,25(OH)₂D₃]水平降低,这些表现与原发性甲状旁腺功能减退一致。骨转换降低,导致PTH缺乏小鼠的小梁骨和皮质骨体积增加。当将突变小鼠置于低钙饮食时,尽管缺乏PTH,但肾脏25-羟维生素D 1α-羟化酶表达增加,导致循环中1,25(OH)₂D₃水平升高、显著的破骨细胞生成以及严重的骨吸收。这些研究表明,在PTH基因缺失的动物中,骨骼表型不仅依赖于外部环境,还依赖于内部激素和离子循环因子。它们还表明,尽管PTH的作用是抵御低钙血症的第一道防线,但即使在没有PTH的情况下,1,25(OH)₂D₃也可以被调动起来,以防止极端的钙缺乏。