Does complete deficiency of muscle α actinin 3 alter functional capacity in elderly women? A preliminary report

Abstract

The sarcomeric protein α actinin 3 is localised to the Z line of fast fibres, which are responsible for generating forceful muscle contractions at high velocity. However, a substantial proportion of healthy humans are totally deficient in this protein as they are homozygous for a premature stop codon polymorphism (R577X) in the ACTN3 gene. The purpose of this preliminary study was to assess if the presence or absence of α actinin 3 influences the deleterious effects of ageing on muscle output and functional capacity.