Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice

Am J Pathol. 2005 Jun;166(6):1711-20. doi: 10.1016/S0002-9440(10)62481-9.

Abstract

We have shown previously that the hypomineralization defects of the calvarium and vertebrae of tissue nonspecific alkaline phosphatase (TNAP)-deficient (Akp2-/-) hypophosphatasia mice are rescued by simultaneous deletion of the Enpp1 gene, which encodes nucleotide pyrophosphatase phosphodiesterase 1 (NPP1). Conversely, the hyperossification in the vertebral apophyses typical of Enpp1-/- mice is corrected in [Akp2-/-; Enpp1-/-] double-knockout mice. Here we have examined the appendicular skeletons of Akp2-/-, Enpp1-/-, and [Akp2-/-; Enpp1-/-] mice to ascertain the degree of rescue afforded at these skeletal sites. Alizarin red and Alcian blue whole mount analysis of the skeletons from wild-type, Akp2-/-, and [Akp2-/-; Enpp1-/-] mice revealed that although calvarium and vertebrae of double-knockout mice were normalized with respect to mineral deposition, the femur and tibia were not. Using several different methodologies, we found reduced mineralization not only in Akp2-/- but also in Enpp1-/- and [Akp2-/-; Enpp1-/-] femurs and tibias. Analysis of calvarial- and bone marrow-derived osteoblasts for mineralized nodule formation in vitro showed increased mineral deposition by Enpp1-/- calvarial osteoblasts but decreased mineral deposition by Enpp1-/- long bone marrow-derived osteoblasts in comparison to wild-type cells. Thus, the osteomalacia of Akp2-/- mice and the hypomineralized phenotype of the long bones of Enpp1-/- mice are not rescued by simultaneous deletion of TNAP and NPP1 functions.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alkaline Phosphatase / deficiency*
  • Animals
  • Blotting, Western
  • Calcification, Physiologic / physiology*
  • Disease Models, Animal
  • Femur / physiopathology
  • Femur / ultrastructure
  • Hypophosphatasia / complications
  • Hypophosphatasia / physiopathology*
  • Immunohistochemistry
  • Leg Bones / physiopathology*
  • Leg Bones / ultrastructure
  • Mice
  • Mice, Knockout
  • Osteoblasts / metabolism
  • Osteomalacia / etiology
  • Osteomalacia / physiopathology*
  • Phosphoric Diester Hydrolases / deficiency*
  • Pyrophosphatases / deficiency*
  • Skull / pathology
  • Spectroscopy, Fourier Transform Infrared
  • Tibia / physiopathology
  • Tibia / ultrastructure
  • Tomography, X-Ray Computed

Substances

  • Alkaline Phosphatase
  • Phosphoric Diester Hydrolases
  • Pyrophosphatases
  • nucleotide pyrophosphatase - phosphodiesterase I