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Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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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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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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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Insulin action is mediated through a receptor tyrosine kinase, akin to the IGF-1 receptor. The number of receptors per cell varies significantly, from 40 on erythrocytes to 300,000 on adipocytes and hepatocytes. The insulin receptor consists of linked α/β subunit dimers, forming a heterotetramer glycoprotein with two extracellular α subunits and two β subunits spanning the membrane. The α subunits inhibit the inherent tyrosine kinase activity of the β subunits, but...
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Leptin: genes, concepts and clinical perspective

R V Considine1, J F Caro

  • 1Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pa 19107, USA.

Hormone Research
|January 1, 1996
PubMed
Summary

Human obesity may stem from the leptin signaling system. Research reviews the ob gene and leptin receptor

Area of Science:

  • Genetics and Endocrinology
  • Molecular Biology

Background:

  • Obesity is a complex condition influenced by genetic and environmental factors.
  • The leptin (ob gene) and leptin receptor genes are key regulators of energy balance.
  • Defects in these genes cause obesity in rodent models.

Purpose of the Study:

  • To review current findings on the ob gene, leptin, and leptin receptor.
  • To explore potential defects in the leptin system contributing to human obesity.

Main Methods:

  • Literature review of animal and human studies.
  • Analysis of genetic and molecular data related to obesity.

Main Results:

  • The ob gene and leptin receptor play significant roles in energy homeostasis.

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  • Evidence suggests a link between leptin system defects and obesity.
  • Conclusions:

    • The leptin signaling pathway is a potential target for understanding and treating human obesity.
    • Further research into leptin system defects is warranted.