Vascular Disease
The arterial calcification that develops in patients with the genetic disease ACDC (arterial calcification due to deficiency of CD73) leads to peripheral ischemia. Cells from these patients have increased levels of an enzyme that degrades pyrophosphate, a compound that inhibits calcification. Jin et al. found that cells from ACDC patients had decreased pyrophosphate levels and increased activity of the mTOR pathway, which promotes calcification. These cells formed calcified teratomas when injected into mice. Teratoma calcification was reduced by treating the mice with a mTOR inhibitor or a drug that resembles pyrophosphate, suggesting new treatment options for this disease.
Sci. Signal. 9 , ra121 (2016).