A recent study, published in Nature Communications and reported on by the BBC, has discovered five genes that are linked to pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is the term used for high blood pressure in the pulmonary arteries, which supply the lungs. It is caused by the walls of the arteries thickening and stiffening until they are less flexible and cannot expand well. This means that less blood can move through the vessels resulting in a build up of pressure. To counteract this the right side of the heart has to pump blood more forcefully, which can cause damage and lead to it weaken over time and, in some cases, fail.

PAH is often associated with pre-existing heart and lung issues, but not always. Of those diagnosed, approximately half will survive for the following five years or longer. The treatments for PAH are currently limited and tend to address the symptoms rather than the causes. Many patients receive medications to relax their arties and anticoagulants to prevent blood clots, amongst others. Heart and lung transplants can also be an option for some patients with the most serious forms of the disease, but patients can remain on the waiting list for a long time and often the transplants fail. More treatment options are therefore a priority for researchers and patients, but the poorly understood nature of the disease is a significant obstacle to this.

The recently released study compared the genetic sequences of 1,000 patients with PAH and identified mutations in five genes that are thought to increase risk of the disease. This makes it the largest genetic study of PAH to be done to date, and contributes new knowledge about the processes behind the disease. This provides a useful knowledge base that new treatments and diagnostic methods can be developed from. In all five of the genes identified in the study, mutations can prevent the genes from producing a working form of the specific protein they are linked to. This means that while people without mutations have functioning proteins, those at risk of PAH do not, and this prevents the body from effectively building and regulating certain muscle tissues that are linked to PAH.

This study was one element of a large-scale genetic study, called the 100,000 Genomes Project, which aims to carry out genetic research into rare diseases and cancer. The findings outlined here highlight the potential that genetic research has for these areas, and provides useful new knowledge that can be used to more effectively diagnose and treat patients.

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