Does mutated aquaporin-1 cause pulmonary hypertension?

The role of Aquaporin-1 mutations in pulmonary arterial hypertension  

Pulmonary arterial hypertension (PAH) – high blood pressure in the arteries of the lungs – is a rare but incurable condition that leads to heart failure. Several genetic mutations found in people with PAH patients are known to play an important role in changing the cell lining of lung blood vessels. One of these mutated genes is called aquaporin-1, which controls the entry of water in and out of cells that line lung blood vessels. An identical mutation in this gene has been found in several PAH patients in different countries, which strongly suggests that it is important in PAH. This studentship will first investigate whether the mutation alters the function of lung blood vessel cells, and specifically how it affects the ability of aquaporin-1 protein to transport water in and out of blood vessels. They are expecting that the mutation in aquaporin-1 will allow more water through, making blood vessels leaky. They will also investigate whether molecules in an important communication chain, called the bone morphogenic protein (BMP) pathway, which are also known to be mutated in PAH, can control aquaporin-1 function. To confirm that mutated aquaporin-1 is the culprit, they will introduce the mutation in this gene into mice and see whether it causes them to develop PAH. If it does, they will see if they can reverse the process with a BMP-activating molecule.