OnMedica – News – Genes isolated for pulmonary arterial hypertension

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.

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