Title

Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6

Document Type

Article

Publication Date

8-18-2018

JAX Source

J Invest Dermatol 2018 Aug 18 [Epub ahead of print]

PMID

30130617

DOI

https://doi.org/10.1016/j.jid.2018.07.030

Abstract

Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter ABCC6. It was recently demonstrated that the absence of ABCC6-mediated ATP release from the liver, and consequently reduced PPi levels, underlie the pathogenesis of PXE. Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading PPi, we hypothesized that reducing TNAP levels either by genetic or pharmacological means would lead to amelioration of the ectopic mineralization phenotype in the Abcc6

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