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 Experiment Videos

ACTN3 genotype in professional endurance cyclists.

A Lucia1, F Gómez-Gallego, C Santiago

  • 1European University of Madrid, Madrid, Spain. alejandro.lucia@uem.es

International Journal of Sports Medicine
|April 14, 2006
PubMed
Summary

The ACTN3 R577X polymorphism, common in Caucasians, does not enhance endurance performance in elite male athletes. While the alpha-actinin-3 deficient XX genotype may impact sprint ability, it shows no benefit for endurance events.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Family Life and the Integration of Care of a Child With Neurodevelopmental Disability: Parental Experiences and Predictive Factors of Family Functioning, Adjustment and Understanding Disability.

Child: care, health and development·2025
Same author

Effect of nanocomposite chitosan/hydroxyapatite pH-induced hydrogels on the osteogenic differentiation of spheroids from adipose stem cells.

International journal of biological macromolecules·2025
Same author

Combined ultrasound imaging/neurophysiological evaluation for surgical planning in upper limb traumatic nerve injuries with concomitant vascular damage: Two emblematic cases and a review of litterature.

Annales de chirurgie plastique et esthetique·2024
Same author

Colorectal cancer risk mapping through Bayesian networks.

Computer methods and programs in biomedicine·2024
Same author

Metastatic hidradenocarcinoma papilliferum in chronic hidradenitis: an emblematic case and a narrative review.

Archives of dermatological research·2024
Same author

Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients.

Neuromuscular disorders : NMD·2023

Area of Science:

  • Exercise Physiology
  • Human Genetics
  • Sports Science

Background:

  • Alpha-actinin-3 is a Z-disk protein crucial for fast-twitch muscle fibers involved in high-velocity contractions.
  • A common R577X polymorphism in the ACTN3 gene leads to alpha-actinin-3 deficiency in about 20% of Caucasians.
  • Previous research suggested this 'null' XX genotype might benefit endurance performance.

Purpose of the Study:

  • To investigate the frequency of ACTN3 R577X genotypes in elite male endurance athletes.
  • To determine if the XX genotype confers an advantage in endurance performance compared to RR and RX genotypes.

Main Methods:

  • Genotyping for the ACTN3 R577X polymorphism in professional cyclists, endurance runners, and sedentary controls.
  • Comparison of genotype frequencies across the studied groups.

Related Experiment Videos

  • Analysis of endurance performance indicators (VO2max, ventilatory thresholds) in relation to genotype.

    • Main Results:

    • No significant differences in R577X genotype distribution were found between controls, cyclists, and runners.
    • The XX genotype frequency was similar across all groups (controls: 17.9%, cyclists: 26.0%, runners: 17.3%).
    • No significant differences in VO2peak or ventilatory thresholds were observed between athletes with different R577X genotypes.

    Conclusions:

    • The R577X polymorphism of the ACTN3 gene does not appear to provide an advantage for extreme endurance performance in male athletes.
    • The alpha-actinin-3 deficient XX genotype might be detrimental for sprint performance, but not beneficial for endurance.