Saratov JOURNAL of Medical and Scientific Research

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

Year: 2012, volume 8 Issue: №3 Pages: 751-756
Heading: Internal Diseases Article type: Original article
Authors: Borodulin V.B., Shevchenko O.V., Bychkov E.N., Reshetko O.V., Kiselev A.R., Posnenkova O.M., Zhelezinskaja N.V., Sarattsev A.V., Losev O.E.
Organization: Saratov State Medical University, Saratov Institute of Cardiology, Russia, First Moscow State Medical University n.a. I.M. Sechenov, Clinical Hospital of Ministry of Internal Affairs of the Russian Federation

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 <0.05) determined among patients with hypertension stage 1. It was also revealed the dependence on the presence of hypertension stage mutant allele T (hetero-and homozygous variants) in 677 nucleotide gene MTHFR (r = 0,40, p <0.001). Conclusions: The regularities of the distribution of polymorphic variants of MTHFR and NAT2 gene were found out in hypertensive patients according to the stage of the disease.

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