Genetic study could lead to new treatments for sufferers of pulmonary arterial hypertension

Research carried out by a consortium including St George’s, University of London has identified new genes for pulmonary arterial hypertension, which provides renewed hope for people affected with this incurable condition.

Pulmonary arterial hypertension is a rare form of high blood pressure that specifically affects the blood vessels of the lungs. The pulmonary arteries become thickened and narrow, preventing normal blood flow and leading to increased blood pressure. Patients experience shortness of breath, fatigue, chest pain and fainting, as the heart struggles to deliver oxygen to the body. It has a poor prognosis without treatment, usually resulting in death from heart failure two to three after diagnosis.

A UK and Europe-wide consortium of researchers carried out whole-genome sequencing of 1,038 patients in the largest genetic study to date into this condition. They identified three novel genes and provided independent validation of another gene as a key risk factor in the disorder. Their study has been published in Nature Communications.

The identification of new genes relating to the condition highlights previously unexplored cell pathways in the disease’s progression and opens up new avenues for potential drug discovery and development.

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