Scientists from the Institute of General Genetics of the Russian Academy of Sciences and the Russian National Research Medical University (Pirogov Russian National Research Medical University) have discovered a previously unknown mutation in the genes that leads to the development of a rare inherited disease in young people - Liddle's syndrome, in which high blood pressure is observed. This was told by RT authors of scientific work. The results are published in BMC Nephrology.
The discovery was made during the treatment of a 15-year-old youth from Dagestan, who suffered from high blood pressure for the past three years. He passed a genetic test to find out the nature of the disease.
- There are only a few dozen people with Liddle syndrome.
- RIA News
- © Alexander Kryazhev
The results showed a mutation in the SCNN1G gene.
Understanding the nature of the disease made it possible to choose the right treatment for a teenager, normalize the functioning of his circulatory system and kidneys, the researchers noted.
The same genetic mutation was found in relatives of a teenager. As a result, the patient’s sister, whose symptoms were not yet observed, underwent preventive therapy.
“Genetic testing and the discovery of a mutation in the SCNN1G gene helped us begin to treat the sister of the carrier of this variation in DNA even before she had hypertension and pathological changes in the heart,” said Valery Ilinsky, an employee of the Institute of General Genetics of the Russian Academy of Sciences.
According to the scientist, Liddle's syndrome is a very rare disease.
“In all, dozens of cases are known in the world. Unfortunately, we do not know about other patients with Liddle’s syndrome in Russia, ”Ilyinsky noted.
The specialist is confident that the discovery will help further study of this disease.
“Our study allows other doctors to diagnose this disease. Knowing the new mutation of Liddle’s syndrome, you can correctly diagnose its other carriers and prescribe the necessary therapy, ”concluded Ilyinsky.