Deficiency of alpha-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling
Jane T Seto, Monkol Lek, Kate GR Quinlan, Peter J Houweling, Xi F Zheng, Fleur Garton, Daniel G MacArthur, Joanna M Raftery, Sean M Garvey, Michael A Hauser, Nan Yang, Stewart I Head, Kathryn N North
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2011
Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3 in ∼20% of the general population. α-Actinin-3 deficiency is associated with decreased force generation and is detrimental to sprint and power performance in elite athletes, suggesting that α-actinin-3 is necessary for optimal forceful repetitive muscle contractions. Since Z-disks are the structures most vulnerable to eccentric damage, we sought to examine the effects of α-acti..View full abstract
Awarded by Australian National Health and Medical Research Council
Awarded by Australian Research Council
This project was funded in part by a grant from the Australian National Health and Medical Research Council (512254) and a grant from the Australian Research Council Discovery Project (DP0880844). J.T.S, M. L. and D. G. M. were supported by Australian Postgraduate Awards.