Current Pharmacogenomics - Volume 4, Issue 1, 2006

Transposable elements (TEs), which occupy nearly 40% of eukaryotic DNA, are selfish repetitive sequences, able to proliferate in the host genomes via either their DNA copies or RNA intermediates utilizing the mechanism termed 'reverse transcription' and the RNA-dependant DNA polymerase enzyme, called reverse transcriptase. The newly formed DNA copy of the element then integrates into the genome, using a combination Read More

The toxicity that can result from the exposure to numerous xenobiotics can vary greatly for each individual. This is mainly due to differences in the activity of xenobiotic metabolizing enzymes (XME) that participate in the disposal of toxic xenobiotics from the human body. The genes that encode XMEs present a variety of polymorphisms that occur in the promoter or coding regions, resulting in differences in the amount or in the c Read More

Alcohol dependence is a frequent and complex disorder involving both genetic (h2≈ 0.5) and environmental factors. The definition of what is inherited with alcohol dependence is still unknown. Shared liability has been detected with other addictive disorders (mainly nicotine dependence), and certain psychiatric disorders (such as bipolar disorder) and/or personality disorders (specifically antisocial personality). Such a broad Read More

The molecular biology era has allowed the exact definition of the disease-associated-proteins (DAPs). The computational era has analyzed full-length DAPs by antigenicity prediction algorythms based on physico-chemical parameters. Today, proteomics is providing a global comprehensive analysis of defined peptide portions of DAPs. The fine profiling of the disease-associated peptide repertoire is of particular importance in Read More

Drug response is a complex process determined by both genetic and non-genetic factors. Factors that control drug response can be divided into those that affect the systemic distribution and the concentration of drug at its target (pharmacokinetics) and those associated with drug targets and cellular downstream effectors (pharmacodynamics). Most pharmacogenetic studies to date have focused on the influence of geneti Read More

Proton pump inhibitors (PPI) are widely used for the treatment of gastroesophageal reflux disease (GERD), and in combination with antibiotics for the treatment of Helicobacter pylori infection. PPI are mainly metabolized by the polymorphic cytochromes P450 2C19 and 3A4. Genetic polymorphisms of these genes with resulting different enzyme activities may have an impact on the clinical efficacy of PPI-based therapi Read More

The antimetabolite 5-fluorouracil (5-FU) is widely used in combination treatment of patients with advanced stages of colorectal cancer. In the last decade, several studies focused on genetically determined variability in function of certain enzymes that are involved in the metabolism of 5-fluoropyrimidines. Polymorphisms and mutations within the thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR) a Read More

Type 2 diabetes is a complex and heterogeneous metabolic condition that has reached epidemic proportions, affecting more than 150 million individuals worldwide. Maintenance of near-normal glucose control in patients with type 2 diabetes been shown to be associated with a reduced risk of microvascular complications as well as a trend toward reduction of macrovascular events. Treatment with antihyperglycemic agents i Read More