Fixing cell energy production in the cells that line the blood vessels, to find a treatment for PAH

The role of the splicing factor PTBP1 and its target PKM2 in the endothelium in pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare but lethal disease of high blood pressure in the lungs. This high pressure puts a strain on the person’s heart, which struggles to cope and which can lead to heart failure. The precise cause of PAH is unclear and there is no cure. Dr Paola Caruso and her team are among the world’s leading experts in PAH, working to find treatments for this terrible disease. In PAH the small arteries in the lungs change due to overgrowth of the cells in the vessel walls. This is thought to be caused by the vital cells that line the artery wall, called endothelial cells, behaving differently than they should. Research has revealed that some people with PAH have faults in genes that control how these endothelial cells produce energy. Now, Dr Caruso will dig deeper into this discovery, by seeing if the genetic faults can be overcome to restore normal energy production. By correcting the effects of these genetic mutations it is hoped that endothelial cells can be made to return to normal. And with these cells working properly once more, the arteries in the lung may be protected from the dangerous changes seen in patients with PAH. Dr Caruso’s research will take us another step closer to saving lives from PAH.