No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons.

@article{Saunders2007NoAO,
  title={No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons.},
  author={Colleen Saunders and A V September and Stavroulla L Xenophontos and Marios A Cariolou and Lakis C Anastassiades and Timothy David Noakes and Malcolm Collins},
  journal={Annals of human genetics},
  year={2007},
  volume={71 Pt 6},
  pages={777-81}
}
Alpha-actinins are major structural components of the Z-discs in skeletal muscle. Alpha-actinin 3 is encoded by the ACTN3 gene and is expressed only in type II muscle fibres. Homozygosity for the nonsense mutation, 577X, within ACTN3 results in deficiency of alpha-actinin-3 but does not result in an abnormal muscular phenotype. Previous research has found an association of the 577R allele with sprinting and/or power performance. It has also been suggested that the 577X allele may confer an… CONTINUE READING

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