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Related Concept Videos

Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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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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...
Physiology of Emotion01:20

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The physiology of emotions is a multifaceted process involving the autonomic nervous system, brain structures, hormones, and neurotransmitters. This intricate interplay dictates how emotions manifest in the body and influence behavior.
Autonomic Nervous System
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The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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Neurochemical transmission, the conduction of electrical impulses between neurons mediated by neurotransmitters, plays a vital role in various physiological processes. Autonomic drugs exert their effects by modulating neurotransmission within the autonomic nervous system. For instance, drugs such as hemicholinium block the precursor uptake necessary for synthesizing acetylcholine, an essential autonomic neurotransmitter. Following synthesis, neurotransmitters are stored in vesicles. Metyrosine...

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Developing a Rat Model for Bipolar Disorder
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Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing.

F W Lohoff1, R Hodge1, S Narasimhan1

  • 1Translational Research Laboratories, Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

Molecular Psychiatry
|January 23, 2013
PubMed
Summary

Genetic variants in vesicular monoamine transporter 1 (VMAT1) influence emotional brain circuit function and psychopathology risk. Specific VMAT1 polymorphisms impact monoamine signaling and are linked to bipolar disorder.

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Emotional behavior has a heritable component and is frequently altered in psychiatric disorders.
  • Understanding the genetic underpinnings of emotionality is crucial for elucidating molecular and neurobiological mechanisms.

Purpose of the Study:

  • To identify specific genetic variants influencing emotionality and psychopathology.
  • To investigate the functional impact of VMAT1 gene polymorphisms on monoamine transport and brain circuit activity.

Main Methods:

  • In vitro functional assays to assess monoamine transport activity of VMAT1 variants.
  • Analysis of brain circuit responses to VMAT1 polymorphisms using neuroimaging techniques.
  • Deep sequencing of VMAT1 in bipolar disorder patients and control groups.

Main Results:

  • The VMAT1 Thr136Ile polymorphism (rs1390938) is functional, with the Ile allele enhancing monoamine transport.
  • This polymorphism correlates with altered emotional brain circuit responses.
  • Novel VMAT1 variants were identified, including Phe84Ser, exclusively found in bipolar disorder patients and increasing monoamine transport.

Conclusions:

  • VMAT1 gene polymorphisms significantly influence monoamine signaling pathways.
  • These genetic variations affect the functional activity of emotional brain circuits.
  • VMAT1 variants represent potential genetic risk factors for psychopathology, particularly bipolar disorder.