α-actinin-3 and performance

N Yang, F Garton, K North

Published : 2009


The human sarcomeric α-actinins (ACTN2 and ACTN3) are major structural components of the Z line in skeletal muscle; they play a role in the maintenance of sarcomeric integrity and also interact with a wide variety of structural, signaling and metabolic proteins. ACTN2 is expressed in all muscle fibers, and expression of ACTN3 is restricted to the type 2 (fast glycolytic) fibers that are responsible for forceful contraction at high velocity. There is a common stop codon polymorphism R577X in the ACTN3 gene. Homozygosity for the R577X null-allele results in the absence of α-actinin-3 in fast muscle fibers with frequencies that vary from < 1% in Africans to ∼18% in Caucasians. A number of assoc..

View full abstract