Abstract for presentation at 11th International Congress of Human Genetics

MTHFR gene polymorpisms and homocysteine levels in hemodialysis patinets

  • Ivana Novakovic, Institute of Biology and Hum. Genetics, School of Medicine, University of Belgrade, Belgrade, Yugoslavia
  • Olgica Mladenovic, Institute of Biology and Hum. Genetics, School of Medicine, University of Belgrade, Belgrade, Yugoslavia
  • Sanja Simic-Ogrizovic, Institute of Nephrology, Clinical Center of Serbia, Belgrade, Yugoslavia
  • Dusko Mirkovic, Institute of Medical Biochemistry, Clinical Center of Serbia, Belgrade, Yugoslavia
  • Tatjana Damnjanovic, Institute of Biology and Hum. Genetics, School of Medicine, University of Belgrade, Yugoslavia
  • Maja Krajinovic, Institute of Biology and Hum. Genetics, School of Medicine, University of Belgrade, Belgrade, Yugoslavia

    • Methylene-tetrahydropholate reductase (MTHFR) is an important cofactor in Homocysteine (Hcy) metabolism, playing a role in the remethylation of Hcy to methyonine. Decreased MTHFR activity is associated with elevated Hcy plasma level, important due to established toxicity of the Hcy to the vascular endothelium. MTHFR activity has genetic determination: polymorphisms C677T and A1298C in MTHFR gene cause decreased enzyme activity. Large number of studies analyzed frequencies of these polymorphisms in patients with vascular diseases. These investigations are important for nephrological patients too, trying to give answers about a role of genetic factors in hyperHcymia in renal failure. The aim of our study was to establish MTHFR C677T and A1298C frequencies in 75 hemodialysis (HD) patients, and to make correlation between genotypes, Hcy plasma levels, supplemental vitamin therapy, biochemical and clinical markers of atherosclerosis. The established frequencies of C677T and A1298C alleles and genotypes in HD patients were not different from that in whole population. Compared to the other MTFR genotypes patients with MTHFR 677TT and combined 677CT/1298AC genotypes showed higher Hcy levels but better response to vitamin suplementation. The results have practical implementation, indicating etiology of hyperhomcysteinemia and possibilities for vascular disorders prevention in nephrological patients.

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