Title: Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibers
Authors: Vincent, Barbara
Windelinckx, An
Van Proeyen, Karen
Masschelein, Evi
Nielens, Henri
Ramaekers, Monique
Van Leemputte, Marc
Hespel, Peter
Thomis, Martine # ×
Issue Date: Apr-2012
Publisher: Blackwell Publishing
Series Title: Acta Physiologica vol:204 issue:4 pages:555-561
Abstract: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3(-/-) knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre-type-specific approach in humans. The purpose of this study was therefore to compare fibre-type-specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype.
ISSN: 1748-1708
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Exercise Physiology Research Group
× corresponding author
# (joint) last author

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