The researchers analyzed the DNA of thousands of patients with PAH.
A group of scientists under the leadership of nick Morella (Nick Morell) from the British Heart Foundation has discovered genes that cause pulmonary arterial hypertension (LAS) is a rare, but deadly disease.
Pulmonary arterial hypertension is found in about 15-25 people out of a million, but can’t be completely cured. The disease is characterized by high blood pressure in the arteries leading from the heart to the lungs, which eventually leads to heart failure. Half the sick people die within five years. LAG may develop due to disorders of the heart and other organs, but a fifth of the patients the cause of pathological conditions remains unknown.
It turned out that the disease is associated with mutations in the genes ATP13A3, AQP1, SOX17, GDF2 and BMPR2. BMPR2 is responsible for synthesis of bone morphogenetic protein receptor type II, which is involved in the process of bone formation, cell growth and the formation of different tissues from stem cells. Similar is the function of GDF2. SOX17 is a transcription factor that regulates the activity of other genes associated with the development of embryonic tissues. AQP1 (aquaporin 1) provides for the transportation of water molecules across the cell membrane, and ATP13A3 — transport of cations and the formation of ATP molecules.
Was also identified mutations in genes related to the LAG is already known. According to scientists, the results of the study will help to find new therapies for the disease.