Researchers at Columbia University Medical Center have identified new genetic mutations that can cause pulmonary hypertension, a rare fatal disease characterized by high blood pressure in the lungs, Pannochka, an online publication for girls and women aged 14 to 35, reports.. net Mutations found in the KCNK3 gene affect potassium channels in pulmonary artery cells, a mechanism not previously associated with this disease.

Cell culture studies have shown that the effects of these mutations can be blocked by a drug known as a phospholipase inhibitor.. Read more about these results in the New England Journal of Medicine..

“The amazing result of the study is not even that we have identified a completely new gene involved in the development of pulmonary hypertension, but that we have found a drug that can save from some mutations.. In genetics, finding a gene responsible for the development of a disease is a common occurrence.. But it's very rare to find a potential cure for a genetic disease,"

Pulmonary hypertension (PAH) is a progressive disease characterized by abnormally high pressure in the arteries of the lungs, which interferes with blood flow. The heart compensates for this violation and works harder, but over time, the heart muscle can no longer cope with the increased load, and heart failure occurs.. Symptoms of PAH include shortness of breath, dizziness, weakness.

Only 1,000 new cases of the disease are diagnosed in the US each year, but medicine cannot offer any sufficiently effective treatments, so most patients with PAH die within 5-7 years after diagnosis.. The disease is more common in women.

Some cases of pulmonary hypertension are caused by hereditary genetic defects. Many of these "

However, most cases of pulmonary hypertension are considered idiopathic, which means that medicine does not know anything about their origin.. Other forms of PAH are caused by autoimmune diseases, congenital heart disease, infections (schistosomiasis), and drugs.

Dr. Chang and her colleagues discovered new mutations by sequencing exomes (parts of the genome) of family members of PAH patients who had no known mutations.. KCNK3 mutations have been found in 3.2% of people with familial disease and 1.3% of those with "

Scientists have found that these mutations disrupt the function of potassium channels, reducing their activity.. Potassium channels help maintain vascular tone in the pulmonary arteries and adequately respond to low blood oxygen levels..

“We were surprised that KCNK3 plays such an important role in the functioning of potassium channels in the pulmonary arteries.. No one had previously suspected that this mechanism was associated with the development of pulmonary hypertension,” says Dr. Chang.. Previously, only the BMPR2 gene was associated with this disease, and PAH was thought to be caused by impaired growth and division of smooth muscle cells in the wall of the pulmonary arteries..

Dr. Chang and colleagues at another research center have also found that the effects of KCNK3 mutations can be blocked with an experimental phospholipase inhibitor called ONO-RS-082..

These results have so far been obtained only in cell culture.. Further studies will show whether the new agent is suitable for use in laboratory animals, and then in patients with pulmonary hypertension..

“KCNK3 mutations are a rare cause of PAH, so I don’t tend to overestimate our results.. But in any case, the good news is that we have found a new mechanism of disease, and that it can be a target for drug therapy,” summed up Dr. Chang..

medbe. en.