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Abstract                                                                         [Full-Text PDF] [Macedonian Abstract] [OnlineFirst Full-Text PDF]


Macedonian Journal of Medical Sciences. 2008 Sep 15; 1(1):68-70.
Scientific Project


Homocysteinemia and Methylentetrahydrofolate Reductase Gene Mutation as a Risk Factor for Blood Vessel Disease

Sloboda Dzhekova-Stojkova1, Marija Krstevska1, Gordana Bosilkova1, Snezhana Trajkovska1, Stojanka Kostovska2, Mirko Spiroski3, Vladimir Borozanov4, Aleksandar Petlichkovski3, Tatjana Darkovska5

1Institute of Medical and Experimental Biochemistry, Faculty of Medicine, University “Ss Kiril and Methodij”, Skopje, Republic of Macedonia; 2Institute of Blood Transfusion, Skopje, Republic of Macedonia; 3Institute of Immunobiology and Human Genetics, Faculty of Medicine, University “Ss Kiril and Methodij”, Skopje, Republic of Macedonia; 4Clinic of Cardiology, Faculty of Medicine, University “Ss Kiril and Methodij”, Skopje, Republic of Macedonia; 5Pharmaceutical Company “ Jaka”, Skopje, Republic of Macedonia

The aim of the project was to investigate homocysteinemia and Methylentetrahydrofolate reductase (MTHFR) gene (C677T) mutation with vascular diseases. The investigation comprised a total number of 378 subjects divided into two main groups: 194 healthy individuals and 184 patients: 91 with arterial occlusive disease (AOD) and 93 with thrombosis of deep vein (TDV). Concentration of total homocysteine (tHcy) in plasma was determined using the modified immuno-enzyme method. Mutation of MTHFR C677T was examined with polymerase chain reaction with CVD StripAssay (ViennaLab Labordiagnostika GmbH) as a segment of 12 mutations of the cardiovascular system. Concentration of tHcy in patients with AOD was 16.3 ± 8.4 µmol/L in men, 14.1 ± 3.3 µmol/L in women and it was statistically significantly increased as compared to healthy subjects from the same gender (p<0.001). Concentration of tHcy in men with TDV was 14.0 ± 3.5 µmol/L, 13.4 ± 3.0 µmol/L in women and it was significantly increased in comparison to healthy subjects (p<0.001). Concentration of homocysteine in plasma of healthy subjects with different genotype of MTHFR C677T showed significantly higher values for TT when compared to CC genotype as well as to CT genotype. Comparison between healthy and sick individuals both separately, AOD and TDV, or as one entity, showed significantly higher values for the genotypes CC and CT, but not for the TT genotype. There was no correlation of MTHFR C677T gene mutations with AOD and TDV.


Key words: Total homocysteine; immuno-enzyme method; reference values; arterial occlusive disease; thrombosis of deep veins; mutation; methylentetrahydropholat reductase.


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