Pulmonary Arterial Hypertension Associated ATP13A3 Mutations

Study code

Lead researcher
Prof. Nick Morrell

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases


Pulmonary arterial hypertension is a rare disease leading to sufferers becoming increasingly breathless. This is caused by the walls of the blood vessels in the lungs becoming thicker and narrower. This reduces the ability of these vessels to cope with the normal blood flow and puts more strain on the right side of the heart. If the patients are not treated, the right heart fails by 2-3 years after the disease has been identified. The drugs that are available can roughly double this survival period, but the only complete cure currently available is a heart-lung transplant.

This disease can result from damage to particular genes, but not all patients can be explained by the known genes. We have analysed the entire genetic makeup of many of these patients and have identified a new gene, called ATP13A3, which is predicted to be damaged in a small number of patients. We are working to confirm this.

The main cell types affected in this disease are the cells lining the blood vessels of the lungs. To obtain these cells requires an invasive procedure with a risk of complications. As a solution, we can purify a small number of cells from the peripheral blood that behave in the same way as the cells lining the blood vessels. We can grow these blood-derived cells to obtain large numbers that we can study in the laboratory. This allows us to explore how gene mutations change the way these cells behave and to test promising new drug treatments. This project is aimed at asking patients with these potentially damaging changes in ATP13A3 to provide a venous blood sample so we can grow their blood-derived cells for further study.