BHF Professor Nick Morrell and his research team are investigating why lung blood vessels narrow in Pulmonary Arterial Hypertension (PAH) and how the narrowing might be prevented or reversed. In PAH, there is abnormally high blood pressure in the arteries carrying blood to the lungs. It can develop after long-term lung or heart disease, or from other diseases that narrow the lung arteries.
Kath Graham had severe idiopathic Pulmonary Arterial Hypertension (PAH). She was collapsing almost daily and spent much of her time in a wheelchair. After waiting for two years, Kath received a heart and lung transplant in 2013. She was in a coma for the first week following the transplant, but gradually recovered.
Professor Morrell speaks to Heart Matters about his research.
How are genes involved?
Pulmonary hypertension can run in families. It usually happens due to an alteration in the gene for a specific protein, called 'bone morphogenetic protein receptor type 2' (BMPR2).
Professor Morrell's team was the first to show how alterations in BMPR2 cause faulty signals to be sent in cells lining the lung blood vessels, leading to faulty control of these cells' growth and survival.
They are now looking for ways to correct the underlying genetic defects, including using drug therapies to restore normal function of BMPR2, or replacing the faulty gene using gene therapy.
Why are lung blood vessels different?
Lung blood vessels behave differently from blood vessels in the rest of the body. These different vessels are the only blood vessels involved in pulmonary hypertension.
Alterations in BMPR2 only seem to have effects on lung arteries. Studying this gene is fundamental to discovering how pulmonary hypertension develops, and why lung circulation is unique.
Professor Morrell's work suggests BMPR2 is also involved in non-inherited forms of the disease. His studies will help us to understand the different forms of pulmonary hypertension but more work is needed.
Find out more about a breakthrough in treating PAH that has come from Professor Morrell and his team.