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Genes isolated for pulmonary arterial hypertension

Doctors hope the discovery will lead to potential new treatments

Mark Gould

Monday, 16 April 2018

Scientists say they have identified genes that cause pulmonary arterial hypertension (PAH) - an inherited condition that can only be cured by transplants of the heart or lungs.

PAH kills 50% of those affected within five years, but little was known about what caused the condition in some people.

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.

Writing in Nature Communications,* they found that mutations in five genes were responsible for causing the illness in these people, including in four genes that were not previously known to be involved in the disease.

In people with the condition, these genes fail to effectively produce the proteins that are required for the structure, function and regulation of the body's tissues, researchers found. The research was part of a pilot study for the 100,000 Genomes Project - a huge initiative focused on understanding the genetics of cancer and rare diseases.

Professor Nick Morrell, the British Heart Foundation Professor of Cardiopulmonary Medicine in the Department of Medicine at the University of Cambridge School of Clinical Medicine, led the research. He told 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 really well-grounded knowledge about what's actually causing it in cases where you find these mutations," he explained.

Prof Morrell said such genetic studies were helping to transform our understanding of rare diseases.

He said: "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.

"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," he said.


* Gräf S, Haimel M, Bleda M, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nature Communications, volume 9, Article number: 1416 (2018), published online 12 April 2018.

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