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Endocrine/metabolic disease

Metabolic disease

ATP-binding cassette sub-family C member 6 (ABCC6; MRP6; PXE)

In vitro and mouse studies suggest upregulating plasma levels of pyrophosphate could help treat pseudoxanthoma elasticum (PXE). PXE is an inherited genetic disorder caused by ABCC6 mutations, which lead to mineralization of the skin, eyes and arteries. In culture medium from a human cell line engineered to express wild-type ABCC6, levels of the ATP hydrolysis product pyrophosphate were higher than those in medium from cells expressing mutant ABCC6. In Abcc6 knockout mouse models of PXE, plasma pyrophosphate levels were up to 5.6-fold lower than those in unaltered mice. Ongoing work includes investigating the mechanism by which mutant ABCC6 leads to reduced plasma levels of pyrophosphate.

SciBX 7(1); doi:10.1038/scibx.2014.18
Published online Jan. 9, 2014

Unpatented; unlicensed

Jansen, R.S. et al. Proc. Natl. Acad. Sci. USA;
published online Nov. 25, 2013;
Contact: Koen van de Wetering, The Netherlands Cancer Institute, Amsterdam, the Netherlands
Contact: Piet Borst, same affiliation as above