In a breakthrough discovery, scientists claim that they have successfully identified five genes that cause pulmonary arterial hypertension, a life-threatening condition which affects the arteries in the heart and the lungs.
Pulmonary arterial hypertension can only be cured by a transplant of the affected area and 50% of the patients usually die within five years of diagnosis.
Researchers say that this latest development could now help diagnose the disease in it’s early stages and pave way for better treatment options. It has brought much hope to the medical community worldwide as not much was known about what exactly caused this condition.
The research was published in the journal Nature Communications.
What Is Pulmonary Arterial Hypertension?
As per WHO, pulmonary arterial hypertension causes high blood pressure in the arteries from the heart leading to the lungs.
The arteries in the lungs become narrow and constrict the blood flow. This leads to the rise in blood pressure in the lungs while the heart exerts more pressure to pump the blood in these arteries. Eventually, the muscles in the heart can become weak and lead to heart failure.
It usually affects people with prior heart or lung conditions, but in a fifth of the patients, there is no known cause.
Doctors usually suggest patients to go for a lung and/or heart transplant but in most cases, the body ends up rejecting the transplanted organs, specifically the lungs.
The Study
For the study, scientists studied the genomes (an organism’s entire set of DNA) of more than 1,000 patients who were diagnosed with pulmonary arterial hypertension.
The results showed that five genes were primarily responsible for causing this disease in humans. These five genes included four new ones which were previously not known to be the cause.
Researchers found that these genes prevented the body from producing the necessary proteins for the normal functioning and regulation of the body’s tissues in patients with pulmonary arterial hypertension.
In an interview to BBC News, Nick Morell, a professor at the British Heart Foundation and the lead author of the paper, said:
Identifying the nature of these new genes and mutations in the new genes tells you what causes the disease. 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.Nick Morell, Lead Author & Professor at the British Heart Foundation.
The study was part of the 1,00,000 Genomes Project - an initiative for understanding the genetics of cancer and other rare diseases.
(With inputs from BBC.)
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