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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
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Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Lithium Pharmacogenetics: Where Do We Stand?

Claudia Pisanu1, Carla Melis1, Alessio Squassina1,2

  • 1Department of Biomedical Sciences, Section of Neuroscience and Clinical Pharmacology, University of Cagliari, Italy.

Drug Development Research
|September 17, 2016
PubMed
Summary
This summary is machine-generated.

Bipolar disorder patients often don't respond to lithium. Genetic studies identified long noncoding RNAs influencing lithium response, offering new biomarkers. Ebselen shows promise as a safer alternative treatment for bipolar disorder.

Keywords:
bipolar disorderebselenlithiummood stabilizerspharmacogenetics

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Area of Science:

  • Pharmacogenomics
  • Neuroscience
  • Genetics

Background:

  • Bipolar disorder (BPD) is a prevalent, disabling condition with suboptimal response to lithium, the first-line treatment.
  • Lithium therapy presents challenges due to side effects, poor tolerance, and a narrow therapeutic index.
  • Identifying reliable biomarkers for lithium response has been hindered by the complex genetic and phenotypic nature of BPD.

Purpose of the Study:

  • To investigate the genetic underpinnings of lithium response in bipolar disorder.
  • To explore novel therapeutic targets and alternative treatments for BPD.
  • To highlight the role of noncoding RNAs in pharmacogenetics.

Main Methods:

  • Large-scale genetic association studies, including the International Consortium on Lithium Genetics (ConLiGen).
  • Analysis of long noncoding RNAs (lncRNAs) in relation to lithium response.
  • Drug repurposing screening to identify potential lithium mimetics, such as ebselen.

Main Results:

  • Significant associations were found between two long noncoding RNAs (lncRNAs) and lithium response.
  • This suggests the involvement of the noncoding genome in modulating treatment outcomes for BPD.
  • Ebselen identified as a potential lithium mimetic by inhibiting inositol monophosphatase.

Conclusions:

  • Pharmacogenomic research, particularly focusing on lncRNAs, offers insights into predicting lithium response in BPD.
  • Ebselen presents a promising avenue for new BPD treatments, though further research is needed.
  • Future findings in pharmacogenomics will likely lead to improved, safer treatments for bipolar disorder.