Scientists have identified genes that cause pulmonary arterial hypertension. This is a deadly heart condition that kills 50% of those affected within five years and can only be cured by transplants of the heart or lungs.
Having pulmonary arterial hypertension (PAH) means that the patient has high blood pressure in the arteries that go from your heart to lungs . It's different from having regular high blood pressure. The tiny arteries in the lungs become narrow or blocked. Now, experts say they have discovered five genes that cause the illness. Pulmonary arterial hypertension (PAH) currently affects thousands in the world. It is often diagnosed in people who have other heart or lung conditions, but it can affect people of any age.
The study, published in Nature Communications, was the largest ever genetic study of the disease by analysing the genome of more than 1,000 PAH patients. The research was part of a pilot study for the 100,000 Genomes Project. Nick Morell, the lead author of the paper and professor at the British Heart Foundation, expressed hope it „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." Darren Griffin, professor of genetics at the University of Kent, who was not involved in the study, appreciated it was a big success.