Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6^-/- Mouse Model of PXE.

ABSTRACT: Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused in most cases by inactivating mutations in the ABCC6 gene. It was recently discovered that absence of ABCC6-mediated adenosine triphosphate release from the liver and consequently reduced plasma inorganic pyrophosphate (PPi) levels underlie PXE. This study examined whether reduced levels of circulating PPi, an antimineralization factor, is the sole mechanism of PXE. The Abcc6^-/- and Enpp1^asj mice were crossed with transgenic mice expressing human ENPP1, an ectonucleotidase that generates PPi from adenosine triphosphate. We generated Abcc6^-/- and Enpp1^asj mice, either wild-type or hemizygous for human ENPP1. Plasma levels of PPi and the degree of e

SUBMITTER: Zhao J 

PROVIDER: S-EPMC7069658 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature