ABCC6 prevents the ectopic mineralization seen in PXE by mediating hepatic ATP release

Pseudoxanthoma Elasticum (PXE) is a disease of the soft tissues and predominantly affects the skin, blood vessels and eyes. The pathology at these sites is caused by the precipitation of calcium and phosphate (also called “ ectopic calcification"). In 2000 several groups independently discovered that inactivating mutations in the efflux transporter ABCC6 underlie PXE. ABCC6 is a protein that is predominantly present in the liver. Apparently, ABCC6 in the liver transports a factor into the blood that inhibits the calcification of soft tissues. The identity of this factor was unknown for a long time, but was recently discovered as ATP, the energy carrier of the cell. Dr. van de Wetering will show how this discovery was made and how hepatic ABCC6-mediated release of ATP prevents the ectopic calcification seen in PXE. He will briefly discuss the potential future therapeutic consequences of these findings for PXE patients.

Presenter: Koen van de Wetering, PhD
Presented on November 24, 2014