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Genetic Link in Pulmonary Arterial Hypertension

Posted 339 days ago | 15.04.18

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Genetic Link in Pulmonary Arterial Hypertension

Pulmonary arterial hypertension proves fatal for half  of those affected within five years, but until now little was known of the causes in some people. Now scientists have identified genes that cause the deadly condition that can only be cured by transplants of the heart or lungs.

Researchers report that the findings could lead to earlier detection of the disease and ultimately new treatments.

The illness currently affects around 6,500 people in the UK and causes the arteries carrying blood from the heart to their lungs to stiffen and thicken, finally leading to heart failure. It is often diagnosed in people who have other heart or lung conditions. It can affect people of any age and in about a fifth of people no obvious cause has been identified.


Since there is a waiting list for organ transplants and the body will often ultimately reject them, particularly in the case of lungs more information on this illness will prove invaluable.

For this research scientists carried out the largest ever genetic study of the disease by analysing the genomes of more than 1,000 PAH patients for whom the cause of the illness was unknown.

Mutations in five genes were for to be responsible for causing the illness in these people, including in four genes that were not previously known to be involved in the disease.

 Researchers found that In people with the condition these genes fail to produce  the proteins that are required for the structure, function and regulation of the body's tissues.

Nick Morell, the lead author of the paper and professor at the British Heart Foundation 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

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