The new study, published today in the journal PLoS Genetics,
identifies abnormal functioning in a gene called PKP2 that encodes the plakophilin - 2 protein, which promotes and maintains a healthy skin barrier.
To achieve this goal, the center's clinical and basic investigators are engaging in four distinct yet synergistic projects: 1)
identifying mechanisms of
abnormal cell proliferation, 2) examining the role of thrombosis in the development of PAH, 3) studying the role of nitric oxide deficiency in PAH, and 4) testing two existing drugs to restore lost cellular
function due to a genetic mutation related to PAH.