A research funded by the British Heart Foundation (BHF) and carried out at the University of Cambridge has found that a protein targeting the effects of a faulty gene could offer the first treatment targeting the major genetic cause of Pulmonary Arterial Hypertension (PAH).
According to the team, genetic evidence dating back to the year 2000 indicated that the absence or reduced activity of a particular protein, bone morophogenetic protein type II receptor (BMPR-II), leads to PAH.
This new study led by BHF Professor of Cardiopulmonary Medicine Nick Morrell and including expertise from Dr Rajiv Machado at the University of Lincoln, UK, is the first to use a protein, called BMP9, to reverse the effects of reduced activity of BMPR-II and to reverse the disease itself.
Published in Nature Medicine, the study was conducted in mice and rats, but also using cells from patients with PAH.
The Cambridge team, with contributions from researchers at the University of Lincoln, Switzerland and the US, searched for a BMP protein that could enhance the function of BMPR-II to target the condition.
After several tests, the team showed that BMP9 treatment reversed PAH in three separate mouse and rat models.
They also found that the treatment works in mice with both the genetic from of the disease, and in acquired forms of PAH, where the cause is unknown.
According to Morrell, the next step was to test safety to ensure the compound can be given to people.
PAH is a chronic and debilitating disease that affects the blood vessels in the lungs, leading to heart failure, and leaves sufferers feeling breathless and exhausted.
Currently, the only effective cure is a lung, or heart and lung, transplant, which has associated risks and complications as current treatments only target the symptoms.
PAH patients have a 30% chance of dying within 3 years and the condition affects more women than men.