Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes

Overview

Journal Int J Environ Res Public Health

Publisher MDPI

Specialties Environmental Health
Public Health

Date 2023 Mar 11

PMID 36901413

Authors

Omar Pena-Vazquez

Liliana Aracely Enriquez-Del Castillo

Susana Aidee Gonzalez-Chavez

Jaime Guereca-Arvizuo

Ramon Candia Lujan

Claudia Esther Carrasco Legleu

Natanael Cervantes Hernandez

Cesar Pacheco-Tena

Affiliations

Soon will be listed here.

Abstract

Background: CrossFit is known as a functional fitness training high-intensity exercise to improve physical performance. The most studied polymorphisms are the ACTN3 R577X gene, known for speed, power, and strength, and ACE I/D, related to endurance and strength. The present investigation analyzed the effects of training on ACTN3 and ACE gene expression in CrossFit athletes for 12 weeks.

Methods: the studies included 18 athletes from the Rx category, where ACTN3 (RR, RX, XX) and ACE (II, ID, DD) characterization of genotypes and tests of maximum strength (NSCA), power (T-Force), and aerobic endurance (Course Navette) were performed. The technique used was the reverse transcription-quantitative PCR real-time polymerase chain reaction (RT-qPCR) for the relative expression analysis.

Results: the relative quantification (RQ) values for the ACTN3 gene increased their levels 2.3 times ( = 0.035), and for ACE, they increased 3.0 times ( = 0.049).

Conclusions: there is an overexpression of the ACTN3 and ACE genes due to the effect of training for 12 weeks. Additionally, the correlation of the expression of the ACTN3 ( = 0.040) and ACE ( = 0.030) genes with power was verified.

Citing Articles

Influence of genetic polymorphism on sports talent performance versus non-athletes: a systematic review and meta-analysis.

Ferreira C, Silvino V, Trevisano R, de Moura R, Almeida S, Dos Santos M BMC Sports Sci Med Rehabil. 2024; 16(1):223.

PMID: 39482721 PMC: 11529235. DOI: 10.1186/s13102-024-01001-5.

References

Peplonska B, Adamczyk J, Siewierski M, Safranow K, Maruszak A, Sozanski H . Genetic variants associated with physical and mental characteristics of the elite athletes in the Polish population. Scand J Med Sci Sports. 2016; 27(8):788-800. DOI: 10.1111/sms.12687. View

Thomas K, Zheng X, Suarez F, Raftery J, Quinlan K, Yang N . Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle. PLoS One. 2014; 9(2):e88653. PMC: 3921188. DOI: 10.1371/journal.pone.0088653. View

Hogarth M, Garton F, Houweling P, Tukiainen T, Lek M, MacArthur D . Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet. 2015; 25(5):866-77. PMC: 4754040. DOI: 10.1093/hmg/ddv613. View

Ramsbottom R, Brewer J, Williams C . A progressive shuttle run test to estimate maximal oxygen uptake. Br J Sports Med. 1988; 22(4):141-4. PMC: 1478728. DOI: 10.1136/bjsm.22.4.141. View

Ma F, Yang Y, Li X, Zhou F, Gao C, Li M . The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysis. PLoS One. 2013; 8(1):e54685. PMC: 3554644. DOI: 10.1371/journal.pone.0054685. View

Ginszt M, Michalak-Wojnowska M, Gawda P, Wojcierowska-Litwin M, Korszen-Pilecka I, Kusztelak M . ACTN3 Genotype in Professional Sport Climbers. J Strength Cond Res. 2018; 32(5):1311-1315. PMC: 5916482. DOI: 10.1519/JSC.0000000000002457. View

Ben-Zaken S, Eliakim A, Nemet D, Meckel Y . Genetic Variability Among Power Athletes: The Stronger vs. the Faster. J Strength Cond Res. 2016; 33(6):1505-1511. DOI: 10.1519/JSC.0000000000001356. View

Orysiak J, Busko K, Michalski R, Mazur-Rozycka J, Gajewski J, Malczewska-Lenczowska J . Relationship between ACTN3 R577X polymorphism and maximal power output in elite Polish athletes. Medicina (Kaunas). 2014; 50(5):303-8. DOI: 10.1016/j.medici.2014.10.002. View

Egan B, OConnor P, Zierath J, OGorman D . Time course analysis reveals gene-specific transcript and protein kinetics of adaptation to short-term aerobic exercise training in human skeletal muscle. PLoS One. 2013; 8(9):e74098. PMC: 3771935. DOI: 10.1371/journal.pone.0074098. View

10.

Scott R, Irving R, Irwin L, Morrison E, Charlton V, Austin K . ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Med Sci Sports Exerc. 2009; 42(1):107-12. DOI: 10.1249/MSS.0b013e3181ae2bc0. View

11.

Boraita A, de la Rosa A, Heras M, de la Torre A, Canda A, Rabadan M . Cardiovascular adaptation, functional capacity and Angiotensin-converting enzyme I/D polymorphism in elite athletes. Rev Esp Cardiol. 2010; 63(7):810-9. DOI: 10.1016/s1885-5857(10)70166-3. View

12.

Collins M, Xenophontos S, Cariolou M, Mokone G, Hudson D, Anastasiades L . The ACE gene and endurance performance during the South African Ironman Triathlons. Med Sci Sports Exerc. 2004; 36(8):1314-20. DOI: 10.1249/01.mss.0000135779.41475.42. View

13.

Tsianos G, Sanders J, Dhamrait S, Humphries S, Grant S, Montgomery H . The ACE gene insertion/deletion polymorphism and elite endurance swimming. Eur J Appl Physiol. 2004; 92(3):360-2. DOI: 10.1007/s00421-004-1120-7. View

14.

Ahmetov I, Vinogradova O, Williams A . Gene polymorphisms and fiber-type composition of human skeletal muscle. Int J Sport Nutr Exerc Metab. 2012; 22(4):292-303. DOI: 10.1123/ijsnem.22.4.292. View

15.

Seip R, Mair K, Cole T, Semenkovich C . Induction of human skeletal muscle lipoprotein lipase gene expression by short-term exercise is transient. Am J Physiol. 1997; 272(2 Pt 1):E255-61. DOI: 10.1152/ajpendo.1997.272.2.E255. View

16.

Papadimitriou I, Lucia A, Pitsiladis Y, Pushkarev V, Dyatlov D, Orekhov E . ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics. 2016; 17:285. PMC: 4831144. DOI: 10.1186/s12864-016-2462-3. View

17.

MacArthur D, Seto J, Chan S, Quinlan K, Raftery J, Turner N . An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet. 2008; 17(8):1076-86. DOI: 10.1093/hmg/ddm380. View

18.

Ivarsson N, Westerblad H . α-Actinin-3: why gene loss is an evolutionary gain. PLoS Genet. 2015; 11(1):e1004908. PMC: 4295838. DOI: 10.1371/journal.pgen.1004908. View

19.

Dominski F, Tibana R, Andrade A . "Functional Fitness Training", CrossFit, HIMT, or HIFT: What Is the Preferable Terminology?. Front Sports Act Living. 2022; 4:882195. PMC: 9199896. DOI: 10.3389/fspor.2022.882195. View

20.

Broos S, Van Leemputte M, Deldicque L, Thomis M . History-dependent force, angular velocity and muscular endurance in ACTN3 genotypes. Eur J Appl Physiol. 2015; 115(8):1637-43. DOI: 10.1007/s00421-015-3144-6. View