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Russian scientists pinpoint gene mutations linked to cardiovascular diseases

August 21, 18:03 UTC+3 MOSCOW

The scientists have also discovered a polymorphism leads to lowering the risk of coming down with ischemic heart disease

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© Vitaly Nevar/TASS

MOSCOW, August 21. /TASS/. Scientists from Kursk State Medical University, Tomsk National Research Medical Center, and Belgorod State University discovered mutations in three genes connected to ischemic heart disease. In the future, this breakthrough is expected to help treat heart disease. The results of the study have been published in the journal Gene.

Ischemic heart (or coronary artery) disease (IHD) is the insufficient supply of blood to the myocardium. The lack of blood supply results in stenocardia, heart attacks, or spontaneous cardiac standstill and death. According to the World Health Organization, in 2012, IHD was responsible for about 7.4 million deaths which is more than any other reason. In Russia, about 37% of the funding from the total amount allocated for cardiovascular diseases is spent on medication against IHD.

Prior research projects demonstrated that IHD has genetic explanations. The results obtained earlier by other scientists proved that one of the possible reasons for IHD is in the failure of genes responsible for the synthesis of epoxyeicosatrienoic acids (EET) which takes part in the regulation of arterial pressure. Researchers from Russia studied the single-nucleotide polymorphism (SNP) of three genes coding the enzymes necessary for the production of these substances. SNPs are differences in one "letter" of genetic code which appear due to mutations and can often be considered markers for certain diseases.

Scientists analyzed the genome of 561 patients suffering from IHD and 694 healthy subjects, and unveiled four SNPs connected to IHD. The three of them increase the exposure of IHD while one from these three SNPs is especially dangerous for smokers. In contrast, the fourth polymorphism leads to lowering the risk of coming down with IHD.

"The study will assist in developing treatments which support the synthesis of EET, and additionally, in creating a patient-specific medication," coauthor of the study, Alexey Polonikov, Doctor of Medical Sciences, Professor, and Russian Academy of Natural Sciences member said.

The researchers pointed out the necessity of future studies aimed at unraveling the mechanisms of the appearance of IHD caused by genes failures.

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