title: The genetics of human running: ACTN3 polymorphism as an evolutionary tool improving the energy economy during locomotion.
abstract: BACKGROUND
  Covering long distances was an important trait to human evolution and continues to be highlighted for health and athletic status. This ability is benefitted by a low cost of locomotion (CoL), meaning that the individuals who are able to expend less energy would be able to cover longer distances. The CoL has been shown to be influenced by distinct and even 'opposite' factors, such as physiological and muscular characteristics, which are genetically inherited. In this way, DNA alterations could be important determinants of the characteristics associated with the CoL. A polymorphism in the ACTN3 gene (R577X) has been related to physical performance, associating the X allele with endurance and the R allele with strength/power abilities.
  
  
  OBJECTIVE
  To investigate the influence of ACTN3 genotypes on the CoL.
  
  
  METHODS
  One hundred and fifty healthy male individuals performed two constant speed tests (at 10 and 12 km/h) to determine the CoL.
  
  
  RESULTS
  Interestingly, the results showed that heterozygous individuals (RX genotype) presented significantly lower CoL compared to RR and XX individuals.
  
  
  CONCLUSIONS
  It is argued that RX genotype might generate an intermediate strength-to-endurance phenotype, leading to a better phenotypic profile for energy economy during running and, consequently, for long-term locomotion.
authors.affiliation: a Endurance Performance Research Group (GEDAE-USP), School of Physical Education and Sport .
authors.forename: Leonardo A
authors.initials: LA
authors.lastname: Pasqua
authors.affiliation: a Endurance Performance Research Group (GEDAE-USP), School of Physical Education and Sport .
authors.forename: Salomão
authors.initials: S
authors.lastname: Bueno
authors.affiliation: b Faculty of Medicine .
authors.forename: Monique
authors.initials: M
authors.lastname: Matsuda
authors.affiliation: c Laboratory of Experimental Air Pollution, Department of Pathology, Faculty of Medicine, University of São Paulo , São Paulo , SP , Brazil , and.
authors.forename: Mônica V
authors.initials: MV
authors.lastname: Marquezini
authors.affiliation: d Sport Science Research Group, Department of Physical Education and Sports Science (CAV), Federal University of Pernambuco , Vitória de Santo Antão , PE , Brazil.
authors.forename: Adriano E
authors.initials: AE
authors.lastname: Lima-Silva
authors.affiliation: c Laboratory of Experimental Air Pollution, Department of Pathology, Faculty of Medicine, University of São Paulo , São Paulo , SP , Brazil , and.
authors.forename: Paulo H N
authors.initials: PH
authors.lastname: Saldiva
authors.affiliation: a Endurance Performance Research Group (GEDAE-USP), School of Physical Education and Sport .|d Sport Science Research Group, Department of Physical Education and Sports Science (CAV), Federal University of Pernambuco , Vitória de Santo Antão , PE , Brazil.
authors.forename: Rômulo
authors.initials: R
authors.lastname: Bertuzzi
mesh_terms: D000185:Actinin / Q000235:genetics*; D000328:Adult; D000886:Anthropometry; D005075:Biological Evolution; D004734:Energy Metabolism / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012119:Respiration; D012420:Running / Q000502:physiology*
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin
keywords: ACTN3; evolution; genetics; human locomotion; polymorphism