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2006 | 53 | 2 | 299-302
Article title

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

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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.
Publisher

Year
Volume
53
Issue
2
Pages
299-302
Physical description
Dates
published
2006
received
2005-05-18
revised
2006-04-07
accepted
2006-05-05
(unknown)
2006-05-30
Contributors
  • Department of Experimental Cardiology, Bogomoletz Institute of Physiology, Kiev, Ukraine
  • Department of Experimental Cardiology, Bogomoletz Institute of Physiology, Kiev, Ukraine
  • Department of Pediatrics, Bogomoletz National Medical University, Kiev, Ukraine
author
  • Department of Pediatrics, Bogomoletz National Medical University, Kiev, Ukraine
  • Department of Experimental Cardiology, Bogomoletz Institute of Physiology, Kiev, Ukraine
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv53p299kz
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