Five genes that increase the risk of developing pulmonary arterial hypertension has discovered an international scientific team.
It is a rare disease of the arteries of the lungs, which also affects the heart. It affects about 25-50 people per million population and occurs twice as much in women as in men. It occurs at any age and in about one fifth of cases there is no obvious reason.
The pulmonary arteries show thickening and stenosis, which leads to an increase in their pressure, so the heart gradually gets tired and the patients eventually develop heart failure. The condition leads to the death of half the patients within five years and can only be treated by heart or lung transplantation, although often the patient’s body rejects the implant, especially the lungs.
A better understanding of genetic risk factors will help doctors make a more timely diagnosis and eventually develop new treatments, as the Athens News Agency writes.
Researchers, headed by Professor Nicholas Morel of the University of Cambridge University of Medicine, who published the publication in Nature Communications, according to the BBC, have made the largest genetic study of the disease so far, analyzing the genome of 1,038 patients .
Five genes have been identified, the mutations of which cause the disease. Four of the genes are the first time they are discovered.