Which genetic mutations are associated with idiopathic pulmonary arterial hypertension (IPAH)?

Updated: Jul 08, 2020
  • Author: Ronald J Oudiz, MD, FACP, FACC, FCCP; Chief Editor: Zab Mosenifar, MD, FACP, FCCP  more...
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Answer

In 2013, 6 mutations that appear to be associated with PAH and that may be treatable with PAH drugs were discovered in a gene, KCNK3, that had not previously been linked to the disease. Each of the 6 mutations was linked to a loss of function of potassium ion channels. [4, 5] In vitro examination of the investigational agent ONO-RS-082 (2-[p-amylcinnamoyl]amino-4-chlorobenzoic acid), a phospholipase A2 inhibitor, found that for 2 of the 3 mutations tested, the drug restored function to nonworking potassium ion channels.


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