Researchers have found a handful of genes that contribute to pulmonary arterial hypertension, BBC News reports. PAH, it adds, kills about half the people who develop it within five years. Heritable forms of condition are often traced to mutations affecting the transforming growth factor-β pathway, especially the bone morphogenetic protein type 2 receptor (BMPR2).
To search for other involved genes, a University of Cambridge team sequenced the whole genomes of 1,038 people with PAH and 6,385 controls to uncover an increased number of rare variants within the ATP13A3, AQP1 and SOX17 genes of patients, as they report in Nature Communications. The researchers also confirmed the role of GDF2 in PAH and noted that mutations in SOX17 and AQP1 segregated with affected family members.
This, they note, indicates that the genetic architecture of PAH extends beyond mutations in BMPR2.
"Identifying the nature of these new genes and mutations in the new genes tells you what causes the disease," senior author Nick Morell from the British Heart Foundation tells BBC News. "It allows you to design and come up with potential new ways of treating the disease because you have really well-grounded knowledge about what's actually causing it in cases where you find these mutations."