How does alpha-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'
Fiona XZ Lee, Peter J Houweling, Kathryn N North, Kate GR Quinlan
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH | ELSEVIER | Published : 2016
An estimated 1.5 billion people worldwide are deficient in the skeletal muscle protein α-actinin-3 due to homozygosity for the common ACTN3 R577X polymorphism. α-Actinin-3 deficiency influences muscle performance in elite athletes and the general population. The sarcomeric α-actinins were originally characterised as scaffold proteins at the muscle Z-line. Through studying the Actn3 knockout mouse and α-actinin-3 deficient humans, significant progress has been made in understanding how ACTN3 genotype alters muscle function, leading to an appreciation of the diverse roles that α-actinins play in muscle. The α-actinins interact with a number of partner proteins, which broadly fall into three bi..View full abstract
Awarded by National Health and Medical Research Council of Australia
Awarded by Australian Research Council
Awarded by Dora Lush Biomedical Scholarship from the National Health and Medical Research Council of Australia
This work was supported by grants from the National Health and Medical Research Council of Australia (APP1062500) and the Australian Research Council (DP120100754). F.X.Z Lee is supported by a Dora Lush Biomedical Scholarship from the National Health and Medical Research Council of Australia (APP1038991).