Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report.
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.
San Juan
A F
AF
Universidad Europea de Madrid, Madrid, Spain.
Gomez-Gallego
F
F
Cañete
S
S
Santiago
C
C
Pérez
M
M
Lucia
A
A
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
C118456:ACTN3 protein, human; D000185:Actinin