Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease

BMC Genetics
Federica SentinelliMarco G Baroni

Abstract

Among the possible candidate genes for atherosclerosis experimental data point towards the longevity gene p66Shc. The p66Shc gene determines an increase of intracellular reactive oxygen species (ROS), affecting the rate of oxidative damage to nucleic acids. Knock-out p66Shc-/- mice show reduction of systemic oxidative stress, as well as of plasma LDL oxidation, and reduced atherogenic lesions. Thus, p66Shc may play a pivotal role in controlling oxidative stress and vascular dysfunction in vivo. We searched for sequence variations in the p66Shc specific region of the Shc gene and its upstream promoter by PCR-SSCP in a selected group of early onset coronary artery disease (CAD) subjects (n. 78, mean age 48.5 +/- 6 years) and in 93 long-living control subjects (mean age 89 +/- 6 years). The analysis revealed two variant bands. Sequencing of these variants showed two SNPs: -354T>C in the regulatory region of p66Shc locus and 92C>T in the p66 specific region (CH2). Both these variants have never been described before. The first substitution partially modifies the binding consensus sequence of the Sp1 transcription factor, and was detected only in two heterozygous carriers (1 CAD subjects and 1 control subject). The 92C>T substitutio...Continue Reading

References

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Feb 7, 2003·Proceedings of the National Academy of Sciences of the United States of America·Claudio NapoliPierGiuseppe Pelicci
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Feb 1, 1998·Trends in Cardiovascular Medicine·J Abe, B C Berk

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Citations

Sep 13, 2011·Medical Hypotheses·Nozomu Mori, Mari Mori
Jun 6, 2019·Basic Research in Cardiology·Kerstin BoenglerRainer Schulz

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Methods Mentioned

BETA
environmental stresses
PCR

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