Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

24
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...
24
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

29
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...
29
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

40
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...
40
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

31
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...
31
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

29
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...
29
Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance01:25

Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance

264
In healthy individuals, serum creatinine levels remain stable due to a balance between its constant production—primarily from muscle metabolism—and renal excretion. Creatinine is freely filtered by the glomeruli, making it a valuable marker for estimating renal function. When the glomerular filtration rate (GFR) decreases, the kidneys can only eliminate less creatinine, causing serum levels to rise.Serum creatinine concentration is widely used to estimate creatinine clearance...
264

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Sport engagement and life satisfaction in late childhood: a population-based analysis.

Frontiers in sports and active living·2026
Same author

Habitual creatine intake is associated with greater lean body mass and handgrip strength in the U.S. general population.

Nutrition and health·2026
Same author

Brain creatine, estradiol and neurocognitive complaints in perimenopausal women: an exploratory cross-sectional study.

Neuroscience letters·2026
Same author

Beyond plasma signatures: reframing bioenergetic disruption in long COVID as a neurological disorder.

Journal of translational medicine·2026
Same author

Current Status of Newborn Screening in Southeastern and Central Europe.

International journal of neonatal screening·2026
Same author

Association Between Sub-National Regional Socioeconomic Status and Childhood Obesity in Five South-East European Countries: The WHO European Childhood Obesity Surveillance Initiative-COSI (2019).

Children (Basel, Switzerland)·2026

Related Experiment Video

Updated: Feb 22, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

12.3K

Genetic Determinants of Creatine Bioavailability and Responsiveness: Emphasis on Common Low-Impact Variants.

Sergej M Ostojic1,2, Ivana Kavecan3,4

  • 1Faculty of Health Sciences, University of Pécs, Pécs, Hungary, sergej.ostojic@chess.edu.rs.

Lifestyle Genomics
|February 20, 2026
PubMed
Summary

Creatine non-responsiveness is likely due to multiple common genetic variants affecting its transport, synthesis, and utilization, rather than rare mutations. Understanding this polygenic trait can lead to personalized creatine supplementation strategies.

Keywords:
BioenergeticsCreatineGenetic variationPrecision nutritionSLC6A8Supplement

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K

Related Experiment Videos

Last Updated: Feb 22, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

12.3K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K

Area of Science:

  • Nutritional Biochemistry
  • Human Genetics
  • Exercise Physiology

Background:

  • Creatine is a key regulator of cellular energy and a popular supplement, but responses vary significantly among individuals.
  • While non-genetic factors are known, the influence of common genetic variations on creatine responsiveness is underexplored.
  • Individual differences in creatine bioavailability and functional benefits may be influenced by genetic background.

Purpose of the Study:

  • To reframe creatine responsiveness as a polygenic trait influenced by common genetic variants.
  • To synthesize evidence on how genetic variations in creatine transport, synthesis, and metabolism affect responsiveness.
  • To emphasize population-relevant genetic mechanisms over rare mutations.

Main Methods:

  • A narrative review integrating human genetics databases, biochemical pathways, and physiological studies.
  • Focused on common low-impact variants in creatine transporter (SLC6A8) and biosynthesis (GATM, GAMT) genes.
  • Examined modifier genes in mitochondrial function, phosphagen buffering, and energy metabolism.

Main Results:

  • Prevalent low-impact variants in SLC6A8 contribute to a spectrum of creatine transport efficiency, with sex-dependent effects.
  • Common polymorphisms in GATM and GAMT may affect creatine synthesis, increasing reliance on dietary creatine.
  • Genetic variations in mitochondrial and muscle-related pathways can modulate creatine's functional benefits, even with similar tissue uptake.

Conclusions:

  • The cumulative effect of common low-impact genetic variants provides a more plausible explanation for creatine non-responsiveness than rare defects.
  • Viewing creatine response as a graded, polygenic trait helps interpret varied supplementation trial outcomes.
  • Integrating genetic information into study designs can enhance the detection of creatine's effects and guide precision supplementation.