Allelic polymorphism of endothelial NO-synthase gene and its functional manifestations

• Authors: Victor E Dosenko , Vyacheslav Y Zagoriy , Nikolay V Haytovich , Olga A Gordok , Alexey A Moibenko
• Languages of publication: EN

Abstracts

EN

Investigation of the mechanisms of phenotypic realization of allelic polymorphism of the eNOS gene has shown that the level of eNOS mRNA and activity of this enzyme in platelets depends from genotype. We identified a T-786→C polymorphism in the promoter region, a variable number of tandem repeats (4a/4b) in intron 4 and the G894→T polymorphism in exon 7 of the eNOS gene in isolated human platelets. We measured eNOS mRNA in isolated platelets by reverse transcription-PCR and eNOS enzyme activity by fluorimetric detection system FCANOS-1 using diaminofluorescein diacetate (DAF-2A). It was shown that the level of eNOS mRNA is the lowest for the -786C/C promoter genotype. In exon 7 homozygotes (894T/T) the level of RNA is lower than in normal homozygotes (894G/G), but higher than in heterozygotes (894G/T). The eNOS activity in platelets is lower in carriers of the 786C/C promoter genotype than in normal homozygotes (2.1 × P=0.03), and lower comparing to heterozygotes (2.9 × P>0.05). The eNOS activity accompanying the 894T/T variant of exon 7 is also lower than in normal homozygotes (P>0.05). Regarding the polymorphism in intron 4 - the enzyme's activity is lower in carriers of the 4a/4a genotype comparing to normal homozygotes (1.7 × P>0.05) and lower than in heterozygotes (1.9 × P>0.05). These results allow one to conclude that the T-786→C polymorphism of the eNOS gene promoter most significantly affects the gene expression and eNOS activity.

Keywords

EN

activity of nitric oxide synthase; endothelial nitric oxide synthase; RNA expression; platelets; allelic polymorphism

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2006
• Volume: 53
• Issue: 2
• Pages: 299-302

Dates

published

2006

received

2005-05-18

revised

2006-04-07

accepted

2006-05-05

(unknown)

2006-05-30

Contributors

author

Victor E Dosenko

• Department of Experimental Cardiology, Bogomoletz Institute of Physiology, Kiev, Ukraine

author

Vyacheslav Y Zagoriy

• Department of Experimental Cardiology, Bogomoletz Institute of Physiology, Kiev, Ukraine

author

Nikolay V Haytovich

• Department of Pediatrics, Bogomoletz National Medical University, Kiev, Ukraine

author

Olga A Gordok

• Department of Pediatrics, Bogomoletz National Medical University, Kiev, Ukraine

author

Alexey A Moibenko

• Department of Experimental Cardiology, Bogomoletz Institute of Physiology, Kiev, Ukraine

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