Cytochrome P450 gene variations analysis using MALDI-TOF technology (Abstract/Poster in atti di convegno)

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Label
  • Cytochrome P450 gene variations analysis using MALDI-TOF technology (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Alternative label
  • Mossa A., Saba L., Falzoi M., Pani L., Congeddu E (2008)
    Cytochrome P450 gene variations analysis using MALDI-TOF technology
    in Clinical Chemistry and Laboratori Medicine, Santorini, Greece
    (literal)
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  • Mossa A., Saba L., Falzoi M., Pani L., Congeddu E (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Cytochrome P450 (CYP) enzymes are involved in drug and xenobiotics metabolism. The polymorphic nature of the genes coding for these proteins may modulate enzyme levels influencing the individual response to pharmacological treatment(1). A significant proportion of adverse drug reactions, as well as therapeutic failures, may be caused by genetic variants as single nucleotide polymorphisms (SNPs), especially those occurring in the regulatory or coding regions of CYP genes. Based on allelic variants four major CYP phenotypes have been identified: Poor Metabolizers (PMs) which show null or severely decreased enzyme activity; Intermediate Metabolizers (IMs), characterized by a reduced enzyme activity; Extensive Metabolizers (EMs) representing the wild type phenotype and Ultrarapid Metabolizers (UMs) with an increased enzyme activity. Different isoformes of CYP450 enzymes have been described as clinically relevant target in the field of pharmacogenetics. Among them, 2C9 (CYP2C9), 2C19 (CYP2C19), 3A4 (CYP3A4) and 3A5 (CYP3A5) are involved in the metabolism of major therapeutics drugs such as antidepressant, antiepiletics, anticoagulants and a several key endogenous substrates. The presence of polymorphisms in these genes may influence the correct determination of the therapeutic dose for such drugs even causing serious side effects. To characterize these genes we have developed a mass spectrometry-based genotyping system using Matrix-Assisted Laser Desorption/Ionization Time-Of-Flight mass spectrometry (MALDI-TOF MS) MassARRAY® platform(2). We combined and optimized 3 multiplex SNPs assays with the iPLEXä Assay (SEQUENOM, Inc.) to determine 43 clinically relevant polymorphisms of CYP2C9, CYP2C19, CYP3A4 and CYP3A5 genes. Our data confirmed the presence of some of these allelic variants in a group of 384 Sardinian control samples. Moreover, we validated a reliable, cost-effective and medium-throughput technological platform that can be simply adapted to large-scale genotyping of clinically relevant CYP450 gene variants. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • PharmaNess Scarl, Pula (CA) Italy Consorzio Pharma-GEN, Pula (CA) Italy (literal)
Titolo
  • Cytochrome P450 gene variations analysis using MALDI-TOF technology (literal)
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