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A new method of genetic diagnosis of fat metabolism disorders was created


"Kurchatov Institute"-Petersburg B.P. The employees of Konstantinov Institute of Nuclear Physics Research Center, Petersburg I.P. Together with the scientists of the 1st Pavlov State Medical University, they created a new method of genetic testing, which allows to find out the hereditary tendency and genetic markers of fat metabolism disorders. "Gazete.Ru" was told about this in the press service of the Kurchatov Institute. Dyslipidemia is a disturbance in the exchange of lipids and lipoproteins (fat-like organic compounds in human blood), which can lead to various diseases of the heart and blood vessels. Congenital dyslipidemias are caused by genetic mutations. This study included the evaluation of the function of 39 genes related to lipoprotein metabolism. The NGS-panel method also studies the coding regions of genes associated with hereditary dyslipidemias. In addition, genetic markers of cardiovascular complications are taken into account during the study. "The NGS-panel model not only helps to identify the disease before it appears, but also provides important information about hypolipidemic drugs, statins," "Газете.Ru". "said Valentina Miroshnikova, a senior researcher at the molecular genetics laboratory of the Kurchatov Institute. The method has already been tested on 26 volunteers. In most cases, research has confirmed the diagnosis of familial hypercholesterolemia due to genetic mutations. In addition, the new method also identified sitosterolemia, another rare lipid disorder, in a six-year-old child. The researchers said they will continue to improve the new method. Their next task is to determine the specific pathogenic variants of genetic mutations that lead to lipid metabolism disorders.

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