A rare find
The discovery of a mutation in a teenager made it possible to save his sister from problems with high blood pressure
The mutation was associated with a rare genetic disease
Russian scientists have discovered a previously unknown mutation that is associated with the development of a very rare genetic disease that leads to hypertension and serious kidney disorders at an early age – Liddle syndrome. This is reported by the press service of the Genotek Medical and genetic Center with reference to a publication in the scientific journal BMC Nephrology (Kozina et al., Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report).
Geneticists came to their discovery by studying the medical history of a 15-year-old teenager from Dagestan, who began to suffer from unusually high blood pressure after he turned 12. Three years later, after several unsuccessful attempts at treatment, he got into the Research Clinical Institute of Pediatrics at the Pirogov Russian National Research Medical University, where the authors of the article began to study his disease.
The first analysis of the bioassay, including a low level of potassium in the blood, led doctors to suspect that the teenager may have Liddle syndrome. They checked, one way or another, by deciphering the structure of three genes in the patient, his sister and parents. It turned out that all of them had a previously unknown mutation in the SCNN1G gene.
This helped doctors and scientists to save the 14-year-old sister of a teenager from the appearance of similar problems. In addition, experts normalized the work of his circulatory system and kidneys with the help of the diuretic drug amiloride, which accelerates the removal of sodium ions and slows down the removal of potassium ions.
"As a rule, the development of Liddle syndrome is accompanied by the appearance of extreme forms of hypertension and hypocalemia, but not always all the symptoms of the disease manifest themselves. In this case, genetic testing and the discovery of a mutation in the SCNN1G gene helped us to start treating the sister of the carrier of this variation in DNA even before she had hypertension and pathological changes in the work of the heart," geneticists report.
The life of human cells and all other living beings directly depends on the work of several thousand genes that "conduct" the circulation of substances inside them and the disposal of various "garbage". Even small violations in their structure, for example, single "typos" in DNA, can cause serious health problems and the death of their carrier at an early age.
Some such changes are quite rare, but at the same time they often cause similar problems in the work of the body, the elimination of which requires completely different approaches and drugs. All this, as the authors of the article note, complicates the fight against so–called orphan diseases - extremely rare diseases, the creation of medicines for which is economically unprofitable for commercial companies.
According to scientists, only eight dozen families around the world suffer from this disease, and in all cases it is associated with the appearance of mutations in three genes – SCNN1A, SCNN1B and SCNN1G, which are responsible for the "pumping" of sodium ions in kidney cells. Violations in their work lead to the fact that the body of the carrier of this syndrome almost completely loses the ability to regulate the pressure in the blood vessels normally, which also causes severe disorders in the kidneys themselves. The discovery of the mutation, in turn, will improve the diagnosis of Liddle syndrome and help make life easier for other carriers, the authors conclude.
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