Scientists say they have discovered a gene that may be responsible for a deadly heart condition that kills 50% of those affected within five years. Little was known about the cause of pulmonary arterial hypertension until experts discovered five genes that are believed to cause the illness. The discovery could lead to earlier detection of the deadly condition and eventually new treatments, according to researchers.
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6,500 people in the UK are affected by pulmonary arterial hypertension (PAH) which causes arteries carrying blood from the heart to the lungs to become too thicken. The stiffening of the arteries will eventually lead to heart failure. The disease affects those who have other heart or lung conditions, but it can also affect people of any age. So little has been known up until now of the disease that the only "cure" is a transplant of the heart and lungs. There are long waiting lists for organ transplants and often the body will reject the implant, especially the lungs.
This latest discovery was published in Nature Communications and was the most significant genetic study of the disease ever carried out. The study worked to analyze the genomes of more than 1,000 PAH patients, which is the unique sequence of a person's DNA. Mutations were found in five genes believed to be responsible for causing the disease.
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The lead author of the paper and professor at the British Heart Foundation, Nick Morell, said in an interview with BBC News: "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 well-grounded knowledge about what's causing it in cases where you find these mutations."
"Often people with rare diseases go to lots of different specialists, everybody is scratching their head a bit, we don't know what the cause is, therefore it's hard to find a treatment for it," Morell explained. "Now being able to genetically sequence people with rare diseases at scale allows you to push the genetics into the clinic and into the families, and it also gives you a cause for the disease which you can potentially do something about."
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