British scientists have discovered genes that cause pulmonary arterial hypertension.


A group of scientists led by Nick Morell of the British Heart Foundation discovered genes that cause pulmonary arterial hypertension (PAH) - a rare but deadly disease. This is reported by BBC News.

Pulmonary arterial hypertension occurs in 15-25 people out of a million, but does not lend itself to complete cure. The disease is characterized by high blood pressure in the arteries leading from the heart to the lungs, which eventually leads to cardiac arrest. Half of the sick people die within five years. PAH can develop due to disorders in the work of the heart and other organs, but in a fifth of patients the cause of the pathological condition remains unknown.

Researchers analyzed the DNA of thousands of patients with PAH. It turned out that the disease is associated with mutations in the genes ATP13A3, AQP1, SOX17, GDF2 and BMPR2. BMPR2 is responsible for the synthesis of a type II bone morphogenetic protein receptor that is involved in bone formation, cell growth, and the formation of various tissues from stem cells. A similar function is performed by GDF2. SOX17 is a transcription factor regulating the activity of other genes associated with the development of embryonic tissues. AQP1 (aquaporin 1) provides transportation of water molecules through the cell membrane, and ATP13A3 - transportation of cations and the formation of ATP molecules.

In addition, mutations in genes have been identified, the connection of which with PAH is already known. According to scientists, the results of the study will help find new methods of therapy of the disease.
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