A review highlighting the genetic heterogeneity of PAH, particularly BMPR2 mutations, and the ongoing search for new drug targets through multi-omic approaches.
PAH care unchanged by current genetics; leaves open multi-omic validation of new targets in trials.
<ns4:p>Pulmonary arterial hypertension (PAH) is a rare disorder with a high mortality rate. Treatment options have improved in the last 20 years, but patients still die prematurely of right heart failure. Though rare, it is heterogeneous at the genetic and molecular level, and understanding and exploiting this is key to the development of more effective treatments. <ns4:italic>BMPR2</ns4:italic>, encoding bone morphogenetic receptor type 2, is the most commonly affected gene in both familial and non-familial PAH, but rare mutations have been identified in other genes. Transcriptomic, proteomic, and metabolomic studies looking for endophenotypes are under way. There is no shortage of candidate new drug targets for PAH, but the selection and prioritisation of these are challenges for the research community.</ns4:p>
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Wilkins et al. (2018) studied this question.
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