Cardio-IT

Quality in CARDIOlogy
Medical Informational Technology
Working group

The role of genetic mutations in development of metabolic disturbances in patients with arterial hypertension

Year: 
Authors: 
Borodulin V.B., Shevchenko O.V., Bychkov E.N., Reshetko O.V., Kiselev A.R., Posnenkova O.M., Zhelezinskaja N.V., Saratsev A.V., Losev O.E.
Article type: 
Full text in: 
Abstract: 
The article stresses on the study of molecular markers of essential arterial hypertension providing insight into the pathological mechanisms underlying the disease and creation of «genetic passport» for every patient in the future. Objective — To study genetic markers of 5,10-methylenetetrahydrofolate reductase (MTHFR), involved in the metabolism of homocysteine, and N-acetyltransferase 2 (NAT2), ensuring the process of transformation of acetyl-CoAto acetoacetyl-coenzyme A. Methods — The study involved 160 patients with essential hypertension l-lll stages Caucasian (57.5% female.) aged 20-59 years. MTHFR gene polymorphisms and NAT2 in DNA of peripheral blood leukocytes were studied using a set of Wizard Genomic DNA Purification Kit (Promega, USA). Results — It was shown that «slow acetylators» (homozygous for a mutant version of the gene NAT2) were more frequently (p
Cite as: 
Borodulin VB, Shevchenko OV, Bychkov EN, Reshetko OV, Kiselev AR, Posnenkova OM, Zhelezinskaja NV, Saratsev AV, Losev OE. The role of genetic mutations in development of metabolic disturbances in patients with arterial hypertension. Saratov Journal of Medical Scientific Research 2012; 8(3): 751–756.