Pharmacogenetics: reality or fiction? Or are we there yet?

Lopes-Cendes, Íscia; Guerreiro, Carlos A. M.

doi:10.1590/s0004-282x2011000200001

Cited by 1 publication

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References 8 publications

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“…A farmacogenética é a ciência que estuda a existência de variações nas seqüências de DNA que possam alterar a maneira como o nosso organismo responde ao tratamento com fármacos. De maneira geral, estas variações podem acontecer em genes que codificam para transportadores de fármacos, enzimas envolvidas no metabolismo de fármacos ou a proteínas que estão relacionados com o alvo de fármacos 25 . A farmacogenética ostenta o potencial de identificar um fármaco em particular e a dose deste que será o mais adequado para se obter um efeito terapêutico bem sucedido para cada paciente.…”

Section: Farmacogenética E Polimorfismos De Dnaunclassified

Estudo para a caracterização genotípica e fenotípica da atividade enzimática da subfamilia citocromo P450 CYP2D6 de voluntários sadios.

Gamarra¹

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The CYP450 enzymes are the major drug metabolizing enzymes. They are encoded by genes that show genetic polymorphisms which gives them several phenotypic characteristics. These phenotypes are Poor Metabolizers or PM, or Extensive Metabolizers or EM, Intermediate Metabolizers or IM, and finally, Ultra-rapid Metabolizers or UM. Pharmacogenetics is the science that studies these genetic variations and its relationship to therapeutic response in the body. One of CYP450 enzymes is CYP2D6 enzyme, which are responsible for the metabolism of 25% of clinically prescribed drugs. The main objective of this study was to identify the most important polymorphisms of this gene: CYP2D6 * 1, CYP2D6 * 2, CYP2D6 * 3, CYP2D6 * 4, CYP2D6 * 5, CYP2D6 * 6, CYP2D6 * 10, CYP2D6 * 17 and CYP2D6 * 41 by genotyping methods (PCR Tetra Primer and Sequencing) and phenotyping (by metabolic rate monitoring) in 75 healthy volunteers in Campinas region. To characterize the phenotyping was used to test substance Dextromethorphan (DM). This was monitored by mass spectrometry by determining the concentration of its major metabolite the Dextrorphan (DX), which was extracted from urine samples. The results were compared between these two methods and showed high correlation. We can obtain the identification of allelic frequencies of alleles * 1, * 3 and * 4 by Tetra Primer PCR (30.66%, 1.3% and 14% respectively). The sequencing method has also detected other alleles that were not detected by PCR Tetra Primer. The assessment of the number of copies of the CYP2D6 gene was also assessed. This method detected a volunteer which carrying three copies of CYP2D6 gene, characteristic of Ultra-rapid metabolizers. We can say that the methods used in this study provide polymorphism profiles quickly and conveniently.

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Section: Farmacogenética E Polimorfismos De Dnaunclassified

Estudo para a caracterização genotípica e fenotípica da atividade enzimática da subfamilia citocromo P450 CYP2D6 de voluntários sadios.

Gamarra¹

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Pharmacogenetics: reality or fiction? Or are we there yet?

Cited by 1 publication

References 8 publications

Estudo para a caracterização genotípica e fenotípica da atividade enzimática da subfamilia citocromo P450 CYP2D6 de voluntários sadios.

Estudo para a caracterização genotípica e fenotípica da atividade enzimática da subfamilia citocromo P450 CYP2D6 de voluntários sadios.

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