Title

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

Document Type

Article

Publication Date

5-2017

Keywords

Animals, Diphosphates, Disease Models, Animal, Female, Gene Knockout Techniques, Homeostasis, Kidney, Liver, Male, Multidrug Resistance-Associated Proteins, Mutation, Pseudoxanthoma Elasticum, Rats, Rats, Sprague-Dawley

JAX Source

J Invest Dermatol 2017 May; 137(5):1025-1032

PMID

28111129

Grant

AR055225

Abstract

Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys. The fundamental question on pathogenesis of pseudoxanthoma elasticum, whether lack of ABCC6 expression in liver or kidney is the primary site of molecular pathology in peripheral tissues, has not been addressed. We generated a series of Abcc6(-/-) rats as models of pseudoxanthoma elasticum depicting ectopic mineralization in the skin, eyes, and the arterial blood vessels. Plasma inorganic pyrophosphate (PPi) level was reduced. J Invest Dermatol 2017 May; 137(5):1025-1032