Scientists from the UK the study analyzed the DNA of thousands of patients and identified the genes responsible for the development of a rare fatal disease pulmonary arterial hypertension.
A group of scientists under the leadership of nick Morella (Nick Morell) from the British Heart Foundation conducted a major study, which analyzed the DNA of thousands of patients with PAH. It was found that the development of this disease is due to mutations in the genes ATP13A3, AQP1, SOX17, GDF2 and BMPR2. The last two gene code for the synthesis of bone morphogenetic protein receptor type II. This protein affects bone development, cell growth, formation of tissue from stem cells. SOX17 can influence the genes responsible for the development of embryonic tissues. AQP1 regulates the transport of water through a cell membrane, and ATP13A3 affects the ratio of cations and the formation of ATP.
Pulmonary arterial hypertension is a rare incurable disease, which occurs in 15-25 of people out of a million. It is characterized by high pressure in the arteries of the pulmonary circulation, which eventually causes cardiac arrest. Half of the people suffering from LAG, dies within 5 years. The researchers hope that their following will give impetus to finding new ways to treat this disease.
Maria Matveenko – RIA VistaNews