title: Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report.
abstract: The sarcomeric protein alpha 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 alpha actinin 3 influences the deleterious effects of ageing on muscle output and functional capacity.
authors.affiliation: Universidad Europea de Madrid, Madrid, Spain.
authors.forename: A F
authors.initials: AF
authors.lastname: San Juan
authors.forename: F
authors.initials: F
authors.lastname: Gomez-Gallego
authors.forename: S
authors.initials: S
authors.lastname: Cañete
authors.forename: C
authors.initials: C
authors.lastname: Santiago
authors.forename: M
authors.initials: M
authors.lastname: Pérez
authors.forename: A
authors.initials: A
authors.lastname: Lucia
mesh_terms: D000185:Actinin / Q000172:deficiency*; D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000502:physiology*; D017079:Exercise Tolerance / Q000502:physiology; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000201:enzymology / Q000502:physiology*; D010101:Oxygen Consumption
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin